nsv6314498

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:5
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:46;XX;inv(5)(q14q35)dn AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 50 SVs from 13 studies. See in: genome view

Remapped(Score: Perfect):153,972,325-153,972,325

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314498	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	153,972,325	153,972,325	+
nsv6314498	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	153,972,325	153,972,325	-
nsv6314498	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	154,472,737	154,472,737	+
nsv6314498	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	154,472,737	154,472,737	+
nsv6314498	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	93,280,691	93,280,691	+
nsv6314498	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	93,280,691	93,280,691	+
nsv6314498	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	93,691,259	93,691,259	-
nsv6314498	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	93,691,259	93,691,259	+
nsv6314498	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	93,922,357	93,922,357	-
nsv6314498	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	93,922,361	93,922,361	-
nsv6314498	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	153,351,885	153,351,885	+
nsv6314498	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	153,351,885	153,351,885	-
nsv6314498	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	153,852,297	153,852,297	+
nsv6314498	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	153,852,297	153,852,297	+
nsv6314498	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	92,616,397	92,616,397	+
nsv6314498	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	92,616,397	92,616,397	+
nsv6314498	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	93,026,965	93,026,965	-
nsv6314498	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	93,026,965	93,026,965	+
nsv6314498	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	93,258,062	93,258,062	-
nsv6314498	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	93,258,066	93,258,066	-

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975611	intrachromosomal translocation	Multiple	Multiple	Abnormal hair pattern; Abnormal hair pattern; Abnormal renal cortex morphology; Abnormal renal cortex morphology; Abnormality of the larynx; Abnormality of the larynx; Aspiration; Aspiration; Failure to thrive; Failure to thrive; Feeding difficulties; Feeding difficulties; Global developmental delay; Global developmental delay; Growth delay; Growth delay; High forehead; High forehead; Incomplete partition of the cochlea type II; Incomplete partition of the cochlea type II; Micrognathia; Micrognathia; Microtia; Microtia; Morphological abnormality of the semicircular canal; Morphological abnormality of the semicircular canal; Premature thelarche; Premature thelarche; Profound sensorineural hearing impairment; Profound sensorineural hearing impairment	Pathogenic	ClinVar	RCV000258648.1, VCV000267857.1
nssv17975614	copy number loss	Multiple	Multiple	Abnormal hair pattern; Abnormal hair pattern; Abnormal renal cortex morphology; Abnormal renal cortex morphology; Abnormality of the larynx; Abnormality of the larynx; Aspiration; Aspiration; Failure to thrive; Failure to thrive; Feeding difficulties; Feeding difficulties; Global developmental delay; Global developmental delay; Growth delay; Growth delay; High forehead; High forehead; Incomplete partition of the cochlea type II; Incomplete partition of the cochlea type II; Micrognathia; Micrognathia; Microtia; Microtia; Morphological abnormality of the semicircular canal; Morphological abnormality of the semicircular canal; Premature thelarche; Premature thelarche; Profound sensorineural hearing impairment; Profound sensorineural hearing impairment	Pathogenic	ClinVar	RCV000258648.1, VCV000267857.1
nssv17975612	intrachromosomal translocation	Multiple	Multiple	Abnormal hair pattern; Abnormal hair pattern; Abnormal renal cortex morphology; Abnormal renal cortex morphology; Abnormality of the larynx; Abnormality of the larynx; Aspiration; Aspiration; Failure to thrive; Failure to thrive; Feeding difficulties; Feeding difficulties; Global developmental delay; Global developmental delay; Growth delay; Growth delay; High forehead; High forehead; Incomplete partition of the cochlea type II; Incomplete partition of the cochlea type II; Micrognathia; Micrognathia; Microtia; Microtia; Morphological abnormality of the semicircular canal; Morphological abnormality of the semicircular canal; Premature thelarche; Premature thelarche; Profound sensorineural hearing impairment; Profound sensorineural hearing impairment	Pathogenic	ClinVar	RCV000258648.1, VCV000267857.1
nssv17975613	intrachromosomal translocation	Multiple	Multiple	Abnormal hair pattern; Abnormal hair pattern; Abnormal renal cortex morphology; Abnormal renal cortex morphology; Abnormality of the larynx; Abnormality of the larynx; Aspiration; Aspiration; Failure to thrive; Failure to thrive; Feeding difficulties; Feeding difficulties; Global developmental delay; Global developmental delay; Growth delay; Growth delay; High forehead; High forehead; Incomplete partition of the cochlea type II; Incomplete partition of the cochlea type II; Micrognathia; Micrognathia; Microtia; Microtia; Morphological abnormality of the semicircular canal; Morphological abnormality of the semicircular canal; Premature thelarche; Premature thelarche; Profound sensorineural hearing impairment; Profound sensorineural hearing impairment	Pathogenic	ClinVar	RCV000258648.1, VCV000267857.1
nssv17975615	copy number loss	Multiple	Multiple	Abnormal hair pattern; Abnormal hair pattern; Abnormal renal cortex morphology; Abnormal renal cortex morphology; Abnormality of the larynx; Abnormality of the larynx; Aspiration; Aspiration; Failure to thrive; Failure to thrive; Feeding difficulties; Feeding difficulties; Global developmental delay; Global developmental delay; Growth delay; Growth delay; High forehead; High forehead; Incomplete partition of the cochlea type II; Incomplete partition of the cochlea type II; Micrognathia; Micrognathia; Microtia; Microtia; Morphological abnormality of the semicircular canal; Morphological abnormality of the semicircular canal; Premature thelarche; Premature thelarche; Profound sensorineural hearing impairment; Profound sensorineural hearing impairment	Pathogenic	ClinVar	RCV000258648.1, VCV000267857.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975611	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	93,280,691	93,280,691	+
nssv17975614	Remapped	Perfect	NC_000005.10:g.932 80691delNC_000005. 10:g.93691259del	GRCh38.p12	First Pass	NC_000005.10	Chr5	93,280,691	93,280,691
nssv17975612	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	93,691,259	93,691,259	-
nssv17975614	Remapped	Perfect	NC_000005.10:g.932 80691delNC_000005. 10:g.93691259del	GRCh38.p12	First Pass	NC_000005.10	Chr5	93,691,259	93,691,259
nssv17975613	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	93,922,357	93,922,357	-
nssv17975611	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	93,922,361	93,922,361	-
nssv17975612	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	153,972,325	153,972,325	-
nssv17975615	Remapped	Perfect	NC_000005.10:g.153 972325delNC_000005 .10:g.154472737del	GRCh38.p12	First Pass	NC_000005.10	Chr5	153,972,325	153,972,325
nssv17975613	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	154,472,737	154,472,737	+
nssv17975615	Remapped	Perfect	NC_000005.10:g.153 972325delNC_000005 .10:g.154472737del	GRCh38.p12	First Pass	NC_000005.10	Chr5	154,472,737	154,472,737
nssv17975611	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	92,616,397	92,616,397	+
nssv17975614	Submitted genomic		NC_000005.9:g.9261 6397delNC_000005.9 :g.93026965del	GRCh37 (hg19)		NC_000005.9	Chr5	92,616,397	92,616,397
nssv17975612	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	93,026,965	93,026,965	-
nssv17975614	Submitted genomic		NC_000005.9:g.9261 6397delNC_000005.9 :g.93026965del	GRCh37 (hg19)		NC_000005.9	Chr5	93,026,965	93,026,965
nssv17975613	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	93,258,062	93,258,062	-
nssv17975611	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	93,258,066	93,258,066	-
nssv17975612	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	153,351,885	153,351,885	-
nssv17975615	Submitted genomic		NC_000005.9:g.1538 52297delNC_000005. 9:g.153351885del	GRCh37 (hg19)		NC_000005.9	Chr5	153,351,885	153,351,885
nssv17975613	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	153,852,297	153,852,297	+
nssv17975615	Submitted genomic		NC_000005.9:g.1538 52297delNC_000005. 9:g.153351885del	GRCh37 (hg19)		NC_000005.9	Chr5	153,852,297	153,852,297

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975611		intrachromosomal translocation	de novo	Abnormal hair pattern; Abnormal hair pattern; Abnormal renal cortex morphology; Abnormal renal cortex morphology; Abnormality of the larynx; Abnormality of the larynx; Aspiration; Aspiration; Failure to thrive; Failure to thrive; Feeding difficulties; Feeding difficulties; Global developmental delay; Global developmental delay; Growth delay; Growth delay; High forehead; High forehead; Incomplete partition of the cochlea type II; Incomplete partition of the cochlea type II; Micrognathia; Micrognathia; Microtia; Microtia; Morphological abnormality of the semicircular canal; Morphological abnormality of the semicircular canal; Premature thelarche; Premature thelarche; Profound sensorineural hearing impairment; Profound sensorineural hearing impairment	Pathogenic	ClinVar	RCV000258648.1, VCV000267857.1
nssv17975614	GRCh37: NC_000005.9:g.92616397delNC_000005.9:g.93026965del	copy number loss	de novo	Abnormal hair pattern; Abnormal hair pattern; Abnormal renal cortex morphology; Abnormal renal cortex morphology; Abnormality of the larynx; Abnormality of the larynx; Aspiration; Aspiration; Failure to thrive; Failure to thrive; Feeding difficulties; Feeding difficulties; Global developmental delay; Global developmental delay; Growth delay; Growth delay; High forehead; High forehead; Incomplete partition of the cochlea type II; Incomplete partition of the cochlea type II; Micrognathia; Micrognathia; Microtia; Microtia; Morphological abnormality of the semicircular canal; Morphological abnormality of the semicircular canal; Premature thelarche; Premature thelarche; Profound sensorineural hearing impairment; Profound sensorineural hearing impairment	Pathogenic	ClinVar	RCV000258648.1, VCV000267857.1
nssv17975612		intrachromosomal translocation	de novo	Abnormal hair pattern; Abnormal hair pattern; Abnormal renal cortex morphology; Abnormal renal cortex morphology; Abnormality of the larynx; Abnormality of the larynx; Aspiration; Aspiration; Failure to thrive; Failure to thrive; Feeding difficulties; Feeding difficulties; Global developmental delay; Global developmental delay; Growth delay; Growth delay; High forehead; High forehead; Incomplete partition of the cochlea type II; Incomplete partition of the cochlea type II; Micrognathia; Micrognathia; Microtia; Microtia; Morphological abnormality of the semicircular canal; Morphological abnormality of the semicircular canal; Premature thelarche; Premature thelarche; Profound sensorineural hearing impairment; Profound sensorineural hearing impairment	Pathogenic	ClinVar	RCV000258648.1, VCV000267857.1
nssv17975613		intrachromosomal translocation	de novo	Abnormal hair pattern; Abnormal hair pattern; Abnormal renal cortex morphology; Abnormal renal cortex morphology; Abnormality of the larynx; Abnormality of the larynx; Aspiration; Aspiration; Failure to thrive; Failure to thrive; Feeding difficulties; Feeding difficulties; Global developmental delay; Global developmental delay; Growth delay; Growth delay; High forehead; High forehead; Incomplete partition of the cochlea type II; Incomplete partition of the cochlea type II; Micrognathia; Micrognathia; Microtia; Microtia; Morphological abnormality of the semicircular canal; Morphological abnormality of the semicircular canal; Premature thelarche; Premature thelarche; Profound sensorineural hearing impairment; Profound sensorineural hearing impairment	Pathogenic	ClinVar	RCV000258648.1, VCV000267857.1
nssv17975615	GRCh37: NC_000005.9:g.153852297delNC_000005.9:g.153351885del	copy number loss	de novo	Abnormal hair pattern; Abnormal hair pattern; Abnormal renal cortex morphology; Abnormal renal cortex morphology; Abnormality of the larynx; Abnormality of the larynx; Aspiration; Aspiration; Failure to thrive; Failure to thrive; Feeding difficulties; Feeding difficulties; Global developmental delay; Global developmental delay; Growth delay; Growth delay; High forehead; High forehead; Incomplete partition of the cochlea type II; Incomplete partition of the cochlea type II; Micrognathia; Micrognathia; Microtia; Microtia; Morphological abnormality of the semicircular canal; Morphological abnormality of the semicircular canal; Premature thelarche; Premature thelarche; Profound sensorineural hearing impairment; Profound sensorineural hearing impairment	Pathogenic	ClinVar	RCV000258648.1, VCV000267857.1

dbVar

Database of genomic structural variation

nsv6314498

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

Clinical Assertions

No genotype data were submitted for this variant