Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6314371

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XX;t(1;5)(p31;q33)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: 119 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):85,691,448-85,691,448

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314371	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	85,691,448	85,691,448	-
nsv6314371	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	85,691,449	85,691,449	-
nsv6314371	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	89,533,745	89,533,745	+
nsv6314371	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	89,533,747	89,533,747	+
nsv6314371	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	86,157,131	86,157,131	-
nsv6314371	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	86,157,132	86,157,132	-
nsv6314371	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	88,829,562	88,829,562	+
nsv6314371	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	88,829,564	88,829,564	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975772	interchromosomal translocation	Multiple	Multiple	Abnormal cerebral white matter morphology; Abnormal facial shape; Abnormal facial shape; Abnormality of the cerebral white matter; Cerebral palsy; Cerebral palsy; Depressed nasal bridge; Depressed nasal bridge; EEG abnormality; EEG abnormality; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Hypotonia; Impaired social interactions; Impaired social interactions; Medial flaring of the eyebrow; Medial flaring of the eyebrow; Muscular hypotonia; Myoclonus; Myoclonus; Seizure; Seizures; Short philtrum; Short philtrum; Tip-toe gait; Tip-toe gait; Toe walking	Likely pathogenic	ClinVar	RCV000258694.2, VCV000267832.1
nssv17975773	interchromosomal translocation	Multiple	Multiple	Abnormal cerebral white matter morphology; Abnormal facial shape; Abnormal facial shape; Abnormality of the cerebral white matter; Cerebral palsy; Cerebral palsy; Depressed nasal bridge; Depressed nasal bridge; EEG abnormality; EEG abnormality; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Hypotonia; Impaired social interactions; Impaired social interactions; Medial flaring of the eyebrow; Medial flaring of the eyebrow; Muscular hypotonia; Myoclonus; Myoclonus; Seizure; Seizures; Short philtrum; Short philtrum; Tip-toe gait; Tip-toe gait; Toe walking	Likely pathogenic	ClinVar	RCV000258694.2, VCV000267832.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975772	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	85,691,448	85,691,448	-
nssv17975773	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	85,691,449	85,691,449	-
nssv17975773	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	89,533,745	89,533,745	+
nssv17975772	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	89,533,747	89,533,747	+
nssv17975772	Submitted genomic		GRCh37 (hg19)		NC_000001.10	Chr1	86,157,131	86,157,131	-
nssv17975773	Submitted genomic		GRCh37 (hg19)		NC_000001.10	Chr1	86,157,132	86,157,132	-
nssv17975773	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	88,829,562	88,829,562	+
nssv17975772	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	88,829,564	88,829,564	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975772	interchromosomal translocation	de novo	Abnormal cerebral white matter morphology; Abnormal facial shape; Abnormal facial shape; Abnormality of the cerebral white matter; Cerebral palsy; Cerebral palsy; Depressed nasal bridge; Depressed nasal bridge; EEG abnormality; EEG abnormality; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Hypotonia; Impaired social interactions; Impaired social interactions; Medial flaring of the eyebrow; Medial flaring of the eyebrow; Muscular hypotonia; Myoclonus; Myoclonus; Seizure; Seizures; Short philtrum; Short philtrum; Tip-toe gait; Tip-toe gait; Toe walking	Likely pathogenic	ClinVar	RCV000258694.2, VCV000267832.1
nssv17975773	interchromosomal translocation	de novo	Abnormal cerebral white matter morphology; Abnormal facial shape; Abnormal facial shape; Abnormality of the cerebral white matter; Cerebral palsy; Cerebral palsy; Depressed nasal bridge; Depressed nasal bridge; EEG abnormality; EEG abnormality; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Hypotonia; Impaired social interactions; Impaired social interactions; Medial flaring of the eyebrow; Medial flaring of the eyebrow; Muscular hypotonia; Myoclonus; Myoclonus; Seizure; Seizures; Short philtrum; Short philtrum; Tip-toe gait; Tip-toe gait; Toe walking	Likely pathogenic	ClinVar	RCV000258694.2, VCV000267832.1

No genotype data were submitted for this variant

You are here: NCBI