nsv6634329 - dbVar Variant - NCBI

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nsv6634329

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:42,610,057

Description:GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 AND not provided

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: 59522 SVs from 105 studies. See in: genome view

Remapped(Score: Good):77,538,874-120,148,930

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6634329	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	77,538,874	120,148,930
nsv6634329	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	76,794,355	119,282,836

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18326465	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002291535.3, VCV001710513.3	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18326465	Remapped	Good	NC_000023.11:g.775 38874_120148930dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	77,538,874	120,148,930
nssv18326465	Submitted genomic		NC_000023.10:g.767 94355_119282836dup	GRCh37 (hg19)		NC_000023.10	ChrX	76,794,355	119,282,836

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	Copy number
nssv18326465	GRCh37: NC_000023.10:g.76794355_119282836dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV002291535.3, VCV001710513.3	3

No genotype data were submitted for this variant

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