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dbVar

Database of genomic structural variation

nsv3895832

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:18,258,286

Description:
See descriptions for individual calls in download files

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: 48065 SVs from 127 studies. See in: genome view

Remapped(Score: Good):116,810,291-135,068,576

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3895832	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	116,810,291	135,068,576
nsv3895832	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	116,681,007	134,938,470

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15150780	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000512291.2, VCV000441664.2	3
nssv15153880	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000683373.1, VCV000563884.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15150780	Remapped	Good	NC_000011.10:g.(?_ 116810291)_(135068 576_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	116,810,291	135,068,576
nssv15153880	Remapped	Good	NC_000011.10:g.(?_ 116810291)_(135068 576_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	116,810,291	135,068,576
nssv15150780	Submitted genomic		NC_000011.9:g.(?_1 16681007)_(1349384 70_?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	116,681,007	134,938,470
nssv15153880	Submitted genomic		NC_000011.9:g.(?_1 16681007)_(1349384 70_?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	116,681,007	134,938,470

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
nssv15150780	GRCh37: NC_000011.9:g.(?_116681007)_(134938470_?)dup	copy number gain	see ClinVar for details	See cases	Pathogenic	ClinVar	RCV000512291.2, VCV000441664.2	3
nssv15153880	GRCh37: NC_000011.9:g.(?_116681007)_(134938470_?)dup	copy number gain	germline	not provided	Pathogenic	ClinVar	RCV000683373.1, VCV000563884.1	3

No genotype data were submitted for this variant

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