A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556892



Internal ID15997615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:564349..1101718hg38UCSC Ensembl
Innerchr12:673515..1210884hg19UCSC Ensembl
Innerchr12:543776..1081145hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38537370
hg19537370
hg18537370
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2251n54
Supporting Variantsnssv1176238
SamplesHGDP00466
Known GenesERC1, NINJ2, RAD52, WNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556892
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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