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dbVar

Database of genomic structural variation

nsv3919557

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:11,023,343

Description:NCBI36/hg18 12p13.33-13.2(chr12:74879-11113226)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: 40136 SVs from 135 studies. See in: genome view

Remapped(Score: Good):80,507-11,103,849

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
nsv3919557	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	80,507	80,507	11,103,849	11,103,849
nsv3919557	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	189,673	189,673	11,256,448	11,256,448
nsv3919557	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000012.10	Chr12	59,934	74,879	11,113,226	11,147,715

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128289	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000453338.2, VCV000398710.2	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
nssv15128289	Remapped	Good	NC_000012.12:g.(80 507_80507)_(111038 49_11103849)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,507	80,507	11,103,849	11,103,849
nssv15128289	Remapped	Good	NC_000012.11:g.(18 9673_189673)_(1125 6448_11256448)dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	189,673	189,673	11,256,448	11,256,448
nssv15128289	Submitted genomic		NC_000012.10:g.(59 934_74879)_(111132 26_11147715)dup	NCBI36 (hg18)		NC_000012.10	Chr12	59,934	74,879	11,113,226	11,147,715

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
nssv15128289	NCBI36: NC_000012.10:g.(59934_74879)_(11113226_11147715)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000453338.2, VCV000398710.2	3

No genotype data were submitted for this variant

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