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dbVar

Database of genomic structural variation

nsv6310342

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:3,356

Description:NC_000017.10:g.(?_79801888)_(79805243_?)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: 161 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):81,844,012-81,847,367

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310342	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	81,844,012	81,847,367
nsv6310342	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	79,801,888	79,805,243

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971323	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001953122.3, VCV001442696.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971323	Remapped	Perfect	NC_000017.11:g.(?_ 81844012)_(8184736 7_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	81,844,012	81,847,367
nssv17971323	Submitted genomic		NC_000017.10:g.(?_ 79801888)_(7980524 3_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	79,801,888	79,805,243

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
nssv17971323	GRCh37: NC_000017.10:g.(?_79801888)_(79805243_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV001953122.3, VCV001442696.3

No genotype data were submitted for this variant

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