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dbVar

Database of genomic structural variation

nsv3891306

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:32,713,701

Description:GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)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: 101686 SVs from 145 studies. See in: genome view

Remapped(Score: Good):57,017,561-89,731,261

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3891306	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	57,017,561	89,731,261
nsv3891306	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	57,051,473	89,797,669

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15152203	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000512511.2, VCV000442214.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15152203	Remapped	Good	NC_000016.10:g.(?_ 57017561)_(8973126 1_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	57,017,561	89,731,261
nssv15152203	Submitted genomic		NC_000016.9:g.(?_5 7051473)_(89797669 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	57,051,473	89,797,669

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
nssv15152203	GRCh37: NC_000016.9:g.(?_57051473)_(89797669_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000512511.2, VCV000442214.2	3

No genotype data were submitted for this variant

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