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dbVar

Database of genomic structural variation

nsv3913423

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:179,473

Description:NCBI36/hg18 11p15.4(chr11:7757368-7887669)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: 751 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):7,763,712-7,943,184

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
nsv3913423	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	7,763,712	7,779,245	7,909,546	7,943,184
nsv3913423	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187583.1	Chr11\|NT_1 87583.1	-	1	174,685	174,685
nsv3913423	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_011332695.1	Chr11\|NW_0 11332695.1	-	1	174,178	174,178
nsv3913423	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	7,785,259	7,800,792	7,931,093	7,964,731
nsv3913423	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000011.8	Chr11	7,741,835	7,757,368	7,887,669	7,921,307

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15124809	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000451038.2, VCV000400818.2	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
nssv15124809	Remapped	Good	NW_011332695.1:g.( ?_1)_(174178_17417 8)del	GRCh38.p12	Second Pass	NW_011332695.1	Chr11\|NW_0 11332695.1	-	1	174,178	174,178
nssv15124809	Remapped	Good	NT_187583.1:g.(?_1 )_(174685_174685)d el	GRCh38.p12	Second Pass	NT_187583.1	Chr11\|NT_1 87583.1	-	1	174,685	174,685
nssv15124809	Remapped	Perfect	NC_000011.10:g.(77 63712_7779245)_(79 09546_7943184)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	7,763,712	7,779,245	7,909,546	7,943,184
nssv15124809	Remapped	Perfect	NC_000011.9:g.(778 5259_7800792)_(793 1093_7964731)del	GRCh37.p13	First Pass	NC_000011.9	Chr11	7,785,259	7,800,792	7,931,093	7,964,731
nssv15124809	Submitted genomic		NC_000011.8:g.(774 1835_7757368)_(788 7669_7921307)del	NCBI36 (hg18)		NC_000011.8	Chr11	7,741,835	7,757,368	7,887,669	7,921,307

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
nssv15124809	NCBI36: NC_000011.8:g.(7741835_7757368)_(7887669_7921307)del	copy number loss	not provided	See cases	Uncertain significance	ClinVar	RCV000451038.2, VCV000400818.2	1

No genotype data were submitted for this variant

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