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dbVar

Database of genomic structural variation

nsv5673293

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:562,976

Description:NC_000002.11:g.(?_166605291)_(167168266_?)del 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: 1476 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):165,748,781-166,311,756

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673293	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	165,748,781	166,311,756
nsv5673293	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	166,605,291	167,168,266

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171713	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001388756.1, VCV001075230.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171713	Remapped	Perfect	NC_000002.12:g.(?_ 165748781)_(166311 756_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	165,748,781	166,311,756
nssv17171713	Submitted genomic		NC_000002.11:g.(?_ 166605291)_(167168 266_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	166,605,291	167,168,266

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
nssv17171713	GRCh37: NC_000002.11:g.(?_166605291)_(167168266_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001388756.1, VCV001075230.1

No genotype data were submitted for this variant

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