Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3910101

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:26,197,222

Description:NCBI36/hg18 11q14.2-23.2(chr11:87819065-113972549)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: 67889 SVs from 139 studies. See in: genome view

Remapped(Score: Good):88,423,395-114,620,616

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
nsv3910101	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	88,423,395	88,423,395	114,620,616	114,620,616
nsv3910101	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	88,156,563	88,156,563	114,491,338	114,491,338
nsv3910101	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000011.8	Chr11	87,796,211	87,819,065	113,972,549	113,996,548

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15125487	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000450472.2, VCV000398937.2	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
nssv15125487	Remapped	Good	NC_000011.10:g.(88 423395_88423395)_( 114620616_11462061 6)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	88,423,395	88,423,395	114,620,616	114,620,616
nssv15125487	Remapped	Good	NC_000011.9:g.(881 56563_88156563)_(1 14491338_114491338 )del	GRCh37.p13	First Pass	NC_000011.9	Chr11	88,156,563	88,156,563	114,491,338	114,491,338
nssv15125487	Submitted genomic		NC_000011.8:g.(877 96211_87819065)_(1 13972549_113996548 )del	NCBI36 (hg18)		NC_000011.8	Chr11	87,796,211	87,819,065	113,972,549	113,996,548

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
nssv15125487	NCBI36: NC_000011.8:g.(87796211_87819065)_(113972549_113996548)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000450472.2, VCV000398937.2	1

No genotype data were submitted for this variant

You are here: NCBI