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dbVar

Database of genomic structural variation

nsv4348735

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:795,880

Description:
See descriptions for individual calls in download files

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

Remapped(Score: Good):12,322,751-13,118,630

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4348735	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000024.10	ChrY	12,322,751	13,118,630
nsv4348735	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000024.9	ChrY	14,443,478	15,230,544

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16207609	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001007386.1, VCV000816432.1	3
nssv16215065	copy number loss	Multiple	Multiple	Male infertility; Male infertility	Pathogenic	ClinVar	RCV001090082.1, VCV000870525.1	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16207609	Remapped	Good	NC_000024.10:g.(?_ 12322751)_(1311863 0_?)dup	GRCh38.p12	First Pass	NC_000024.10	ChrY	12,322,751	13,118,630
nssv16215065	Remapped	Good	NC_000024.10:g.(?_ 12322751)_(1311863 0_?)del	GRCh38.p12	First Pass	NC_000024.10	ChrY	12,322,751	13,118,630
nssv16207609	Submitted genomic		NC_000024.9:g.(?_1 4443478)_(15230544 _?)dup	GRCh37 (hg19)		NC_000024.9	ChrY	14,443,478	15,230,544
nssv16215065	Submitted genomic		NC_000024.9:g.(?_1 4443478)_(15230544 _?)del	GRCh37 (hg19)		NC_000024.9	ChrY	14,443,478	15,230,544

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
nssv16207609	GRCh37: NC_000024.9:g.(?_14443478)_(15230544_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001007386.1, VCV000816432.1	3
nssv16215065	GRCh37: NC_000024.9:g.(?_14443478)_(15230544_?)del	copy number loss	unknown	Male infertility; Male infertility	Pathogenic	ClinVar	RCV001090082.1, VCV000870525.1	0

No genotype data were submitted for this variant

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