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dbVar

Database of genomic structural variation

nsv3919985

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:1,860,154

Description:NCBI36/hg18 11q13.3-13.4(chr11:70693226-72510847)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: 4480 SVs from 97 studies. See in: genome view

Remapped(Score: Perfect):71,279,834-73,139,987

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
nsv3919985	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	71,279,834	71,279,834	73,139,987	73,139,987
nsv3919985	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	70,990,880	71,015,578	72,833,199	72,851,032
nsv3919985	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000011.8	Chr11	70,668,528	70,693,226	72,510,847	72,528,680

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127144	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000450329.2, VCV000400351.2	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
nssv15127144	Remapped	Perfect	NC_000011.10:g.(71 279834_71279834)_( 73139987_73139987) del	GRCh38.p12	First Pass	NC_000011.10	Chr11	71,279,834	71,279,834	73,139,987	73,139,987
nssv15127144	Remapped	Perfect	NC_000011.9:g.(709 90880_71015578)_(7 2833199_72851032)d el	GRCh37.p13	First Pass	NC_000011.9	Chr11	70,990,880	71,015,578	72,833,199	72,851,032
nssv15127144	Submitted genomic		NC_000011.8:g.(706 68528_70693226)_(7 2510847_72528680)d el	NCBI36 (hg18)		NC_000011.8	Chr11	70,668,528	70,693,226	72,510,847	72,528,680

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
nssv15127144	NCBI36: NC_000011.8:g.(70668528_70693226)_(72510847_72528680)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000450329.2, VCV000400351.2	1

No genotype data were submitted for this variant

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