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dbVar

Database of genomic structural variation

nsv3922152

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:3,178,017

Description:NCBI36/hg18 12p13.2-13.1(chr12:11147715-14258330)x1 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: 10201 SVs from 124 studies. See in: genome view

Remapped(Score: Good):11,069,360-14,247,376

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
nsv3922152	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	11,069,360	11,069,360	14,247,376	14,247,376
nsv3922152	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	11,221,959	11,256,448	14,367,063	14,400,310
nsv3922152	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000012.10	Chr12	11,113,226	11,147,715	14,258,330	14,291,577

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126972	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000451834.2, VCV000401594.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15126972	Remapped	Good	NC_000012.12:g.(11 069360_11069360)_( 14247376_14247376) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,069,360	11,069,360	14,247,376	14,247,376
nssv15126972	Remapped	Perfect	NC_000012.11:g.(11 221959_11256448)_( 14367063_14400310) del	GRCh37.p13	First Pass	NC_000012.11	Chr12	11,221,959	11,256,448	14,367,063	14,400,310
nssv15126972	Submitted genomic		NC_000012.10:g.(11 113226_11147715)_( 14258330_14291577) del	NCBI36 (hg18)		NC_000012.10	Chr12	11,113,226	11,147,715	14,258,330	14,291,577

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
nssv15126972	NCBI36: NC_000012.10:g.(11113226_11147715)_(14258330_14291577)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000451834.2, VCV000401594.2	1

No genotype data were submitted for this variant

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