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dbVar

Database of genomic structural variation

nsv3921439

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:662,650

Description:NCBI36/hg18 17p13.1(chr17:10557693-11156585)x3 AND See cases

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: 1868 SVs from 88 studies. See in: genome view

Remapped(Score: Perfect):10,676,655-11,339,304

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3921439	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	10,676,655	10,713,651	11,312,543	11,339,304
nsv3921439	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	10,579,972	10,616,968	11,215,860	11,242,621
nsv3921439	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000017.9	Chr17	10,520,697	10,557,693	11,156,585	11,183,346

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127785	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000452086.2, VCV000400252.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15127785	Remapped	Perfect	NC_000017.11:g.(10 676655_10713651)_( 11312543_11339304) dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	10,676,655	10,713,651	11,312,543	11,339,304
nssv15127785	Remapped	Perfect	NC_000017.10:g.(10 579972_10616968)_( 11215860_11242621) dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	10,579,972	10,616,968	11,215,860	11,242,621
nssv15127785	Submitted genomic		NC_000017.9:g.(105 20697_10557693)_(1 1156585_11183346)d up	NCBI36 (hg18)		NC_000017.9	Chr17	10,520,697	10,557,693	11,156,585	11,183,346

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
nssv15127785	NCBI36: NC_000017.9:g.(10520697_10557693)_(11156585_11183346)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000452086.2, VCV000400252.2	3

No genotype data were submitted for this variant

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