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dbVar

Database of genomic structural variation

nsv4684031

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:3,676,802

Description:GRCh37/hg19 Yq11.223-11.23(chrY:24651462-28328263)x0 AND Male infertility

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: 1152 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):22,505,315-26,182,116

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4684031	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000024.10	ChrY	22,505,315	26,182,116
nsv4684031	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000024.9	ChrY	24,651,462	28,328,263

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16215068	copy number loss	Multiple	Multiple	Male infertility; Male infertility	Pathogenic	ClinVar	RCV001090079.1, VCV000870522.1	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16215068	Remapped	Perfect	NC_000024.10:g.(?_ 22505315)_(2618211 6_?)del	GRCh38.p12	First Pass	NC_000024.10	ChrY	22,505,315	26,182,116
nssv16215068	Submitted genomic		NC_000024.9:g.(?_2 4651462)_(28328263 _?)del	GRCh37 (hg19)		NC_000024.9	ChrY	24,651,462	28,328,263

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
nssv16215068	GRCh37: NC_000024.9:g.(?_24651462)_(28328263_?)del	copy number loss	unknown	Male infertility; Male infertility	Pathogenic	ClinVar	RCV001090079.1, VCV000870522.1	0

No genotype data were submitted for this variant

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