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dbVar

Database of genomic structural variation

nsv3914074

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:191,780

Description:NCBI36/hg18 11p13(chr11:35747962-35868112)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: 458 SVs from 47 studies. See in: genome view

Remapped(Score: Good):35,736,499-35,928,278

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
nsv3914074	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	35,736,499	35,736,499	35,928,278	35,928,278
nsv3914074	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	35,758,047	35,791,386	35,911,536	35,949,828
nsv3914074	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000011.8	Chr11	35,714,623	35,747,962	35,868,112	35,906,404

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15124606	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000449786.2, VCV000398180.2	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
nssv15124606	Remapped	Good	NC_000011.10:g.(35 736499_35736499)_( 35928278_35928278) dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	35,736,499	35,736,499	35,928,278	35,928,278
nssv15124606	Remapped	Perfect	NC_000011.9:g.(357 58047_35791386)_(3 5911536_35949828)d up	GRCh37.p13	First Pass	NC_000011.9	Chr11	35,758,047	35,791,386	35,911,536	35,949,828
nssv15124606	Submitted genomic		NC_000011.8:g.(357 14623_35747962)_(3 5868112_35906404)d up	NCBI36 (hg18)		NC_000011.8	Chr11	35,714,623	35,747,962	35,868,112	35,906,404

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
nssv15124606	NCBI36: NC_000011.8:g.(35714623_35747962)_(35868112_35906404)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000449786.2, VCV000398180.2	3

No genotype data were submitted for this variant

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