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dbVar

Database of genomic structural variation

nsv3909056

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:249,508

Description:GRCh37/hg19 10q25.3(chr10:116322646-116572153)x3 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: 682 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):114,562,887-114,812,394

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3909056	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	114,562,887	114,812,394
nsv3909056	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	116,322,646	116,572,153

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15153786	copy number gain	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV000683211.1, VCV000563722.1	3
nssv15775551	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000847499.2, VCV000686791.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15153786	Remapped	Perfect	NC_000010.11:g.(?_ 114562887)_(114812 394_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	114,562,887	114,812,394
nssv15775551	Remapped	Perfect	NC_000010.11:g.(?_ 114562887)_(114812 394_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	114,562,887	114,812,394
nssv15153786	Submitted genomic		NC_000010.10:g.(?_ 116322646)_(116572 153_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	116,322,646	116,572,153
nssv15775551	Submitted genomic		NC_000010.10:g.(?_ 116322646)_(116572 153_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	116,322,646	116,572,153

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15153786	GRCh37: NC_000010.10:g.(?_116322646)_(116572153_?)dup	copy number gain	germline	not provided	Likely benign	ClinVar	RCV000683211.1, VCV000563722.1	3
nssv15775551	GRCh37: NC_000010.10:g.(?_116322646)_(116572153_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000847499.2, VCV000686791.2	3

No genotype data were submitted for this variant

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