A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv874756



Internal ID6281767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105454590..105490397hg19UCSC Ensembl
Outerchr2:105446792..105495727hg19UCSC Ensembl
Innerchr2:104821022..104856829hg18UCSC Ensembl
Outerchr2:104813224..104862159hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1511325
SamplesSP55021
Known GenesLOC100506421, POU3F3
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv874756
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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