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dbVar

Database of genomic structural variation

nsv4729554

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:609,271

Description:GRCh37/hg19 15q15.2-15.3(chr15:43135272-43744542)x1 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: 1350 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):42,843,074-43,452,344

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4729554	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	42,843,074	43,452,344
nsv4729554	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	43,135,272	43,744,542

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16255245	copy number loss	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV001259209.1, VCV000980033.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16255245	Remapped	Perfect	NC_000015.10:g.(?_ 42843074)_(4345234 4_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	42,843,074	43,452,344
nssv16255245	Submitted genomic		NC_000015.9:g.(?_4 3135272)_(43744542 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	43,135,272	43,744,542

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
nssv16255245	GRCh37: NC_000015.9:g.(?_43135272)_(43744542_?)del	copy number loss	germline	not provided	Likely pathogenic	ClinVar	RCV001259209.1, VCV000980033.1	1

No genotype data were submitted for this variant

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