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dbVar

Database of genomic structural variation

nsv6112718

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:143,878

Description:Single allele 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: 548 SVs from 61 studies. See in: genome view

Submitted genomic32,963,226-33,107,103

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6112718	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	32,963,226	33,107,103
nsv6112718	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	32,984,772	33,128,649

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17649997	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001542310.1, VCV001184314.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17649997	Submitted genomic		NC_000011.10:g.329 63226_33107103dup	GRCh38 (hg38)		NC_000011.10	Chr11	32,963,226	33,107,103
nssv17649997	Remapped	Perfect	NC_000011.9:g.3298 4772_33128649dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	32,984,772	33,128,649

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
nssv17649997	GRCh38: NC_000011.10:g.32963226_33107103dup	duplication	inherited	not provided	Uncertain significance	ClinVar	RCV001542310.1, VCV001184314.1

No genotype data were submitted for this variant

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