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dbVar

Database of genomic structural variation

nsv6315159

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,695,818

Description:
Single allele AND Xq25 microduplication syndrome

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: 2790 SVs from 74 studies. See in: genome view

Submitted genomic123,221,813-124,917,630

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6315159	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	123,221,813	124,917,630
nsv6315159	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	122,355,664	124,051,479

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976679	duplication	Multiple	Multiple	CHROMOSOME Xq25 DUPLICATION SYNDROME; Xq25 microduplication syndrome	Pathogenic	ClinVar	RCV002275687.1, VCV001701783.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17976679	Submitted genomic		NC_000023.11:g.123 221813_124917630du p	GRCh38 (hg38)		NC_000023.11	ChrX	123,221,813	124,917,630
nssv17976679	Remapped	Perfect	NC_000023.10:g.122 355664_124051479du p	GRCh37.p13	First Pass	NC_000023.10	ChrX	122,355,664	124,051,479

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
nssv17976679	GRCh38: NC_000023.11:g.123221813_124917630dup	duplication	de novo	CHROMOSOME Xq25 DUPLICATION SYNDROME; Xq25 microduplication syndrome	Pathogenic	ClinVar	RCV002275687.1, VCV001701783.1

No genotype data were submitted for this variant

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