A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556893



Internal ID15997616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:628064..873155hg38UCSC Ensembl
Innerchr12:737230..982321hg19UCSC Ensembl
Innerchr12:607491..852582hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38245092
hg19245092
hg18245092
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv785875
Samples
Known GenesNINJ2, WNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556893
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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