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dbVar

Database of genomic structural variation

nsv6314630

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XY;inv(22)(q11.2q13.3) AND Global developmental delay
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: 63 SVs from 14 studies. See in: genome view

Remapped(Score: Perfect):74,128,795-74,128,795

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314630	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	74,128,795	74,128,795	+
nsv6314630	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	74,130,420	74,130,420	+
nsv6314630	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	57,407,587	57,407,587	-
nsv6314630	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	57,407,690	57,407,690	+
nsv6314630	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	57,407,690	57,407,690	-
nsv6314630	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	57,409,272	57,409,272	+
nsv6314630	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	73,839,840	73,839,840	+
nsv6314630	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	73,841,465	73,841,465	+
nsv6314630	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	55,982,643	55,982,643	-
nsv6314630	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	55,982,746	55,982,746	+
nsv6314630	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	55,982,746	55,982,746	-
nsv6314630	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	55,984,328	55,984,328	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975497	interchromosomal translocation	Multiple	Multiple	Global developmental delay; Global developmental delay	Likely pathogenic	ClinVar	RCV000258607.1, VCV000267994.1
nssv17975499	interchromosomal translocation	Multiple	Multiple	Global developmental delay; Global developmental delay	Likely pathogenic	ClinVar	RCV000258607.1, VCV000267994.1
nssv17975498	intrachromosomal translocation	Multiple	Multiple	Global developmental delay; Global developmental delay	Likely pathogenic	ClinVar	RCV000258607.1, VCV000267994.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975497	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	74,128,795	74,128,795	+
nssv17975499	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	74,130,420	74,130,420	+
nssv17975498	Remapped	Perfect	GRCh38.p12	First Pass	NC_000020.11	Chr20	57,407,587	57,407,587	-
nssv17975497	Remapped	Perfect	GRCh38.p12	First Pass	NC_000020.11	Chr20	57,407,690	57,407,690	-
nssv17975498	Remapped	Perfect	GRCh38.p12	First Pass	NC_000020.11	Chr20	57,407,690	57,407,690	+
nssv17975499	Remapped	Perfect	GRCh38.p12	First Pass	NC_000020.11	Chr20	57,409,272	57,409,272	+
nssv17975497	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	73,839,840	73,839,840	+
nssv17975499	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	73,841,465	73,841,465	+
nssv17975498	Submitted genomic		GRCh37 (hg19)		NC_000020.10	Chr20	55,982,643	55,982,643	-
nssv17975497	Submitted genomic		GRCh37 (hg19)		NC_000020.10	Chr20	55,982,746	55,982,746	-
nssv17975498	Submitted genomic		GRCh37 (hg19)		NC_000020.10	Chr20	55,982,746	55,982,746	+
nssv17975499	Submitted genomic		GRCh37 (hg19)		NC_000020.10	Chr20	55,984,328	55,984,328	+

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
nssv17975497	interchromosomal translocation	unknown	Global developmental delay; Global developmental delay	Likely pathogenic	ClinVar	RCV000258607.1, VCV000267994.1
nssv17975499	interchromosomal translocation	unknown	Global developmental delay; Global developmental delay	Likely pathogenic	ClinVar	RCV000258607.1, VCV000267994.1
nssv17975498	intrachromosomal translocation	unknown	Global developmental delay; Global developmental delay	Likely pathogenic	ClinVar	RCV000258607.1, VCV000267994.1

No genotype data were submitted for this variant

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