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dbVar

Database of genomic structural variation

nsv6315362

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:3,473,289

Description:GRCh37/hg19 Yq11.223-11.23(chrY:24985375-28458663)x2 AND See cases

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: 1179 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):22,839,228-26,312,516

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv6315362	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000024.10	ChrY	22,839,228	26,312,516
nsv6315362	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000024.9	ChrY	24,985,375	28,458,663

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17976831	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV002286334.1, VCV001707418.1	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv17976831	Remapped	Perfect	NC_000024.10:g.(22 839228_?)_(?_26312 516)dup	GRCh38.p12	First Pass	NC_000024.10	ChrY	22,839,228	26,312,516
nssv17976831	Submitted genomic		NC_000024.9:g.(249 85375_?)_(?_284586 63)dup	GRCh37 (hg19)		NC_000024.9	ChrY	24,985,375	28,458,663

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
nssv17976831	GRCh37: NC_000024.9:g.(24985375_?)_(?_28458663)dup	copy number gain	unknown	See cases	Uncertain significance	ClinVar	RCV002286334.1, VCV001707418.1	2

No genotype data were submitted for this variant

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