A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv882919



Internal ID6289930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132172048..132280966hg19UCSC Ensembl
Outerchr5:132142277..132295278hg19UCSC Ensembl
Innerchr5:132199947..132308865hg18UCSC Ensembl
Outerchr5:132170176..132323177hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1555517
SamplesMS21397
Known GenesAFF4, ANKRD43, GDF9, LEAP2, SHROOM1, UQCRQ
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv882919
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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