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dbVar

Database of genomic structural variation

nsv4674085

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:465,465

Description:GRCh37/hg19 Yq11.222(chrY:20563480-21028944)x2 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: 332 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):18,401,594-18,867,058

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4674085	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000024.10	ChrY	18,401,594	18,867,058
nsv4674085	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000024.9	ChrY	20,563,480	21,028,944

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16207617	copy number gain	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV001007397.1, VCV000816443.1	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16207617	Remapped	Perfect	NC_000024.10:g.(?_ 18401594)_(1886705 8_?)dup	GRCh38.p12	First Pass	NC_000024.10	ChrY	18,401,594	18,867,058
nssv16207617	Submitted genomic		NC_000024.9:g.(?_2 0563480)_(21028944 _?)dup	GRCh37 (hg19)		NC_000024.9	ChrY	20,563,480	21,028,944

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
nssv16207617	GRCh37: NC_000024.9:g.(?_20563480)_(21028944_?)dup	copy number gain	germline	not provided	Likely benign	ClinVar	RCV001007397.1, VCV000816443.1	2

No genotype data were submitted for this variant

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