A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556885



Internal ID15997608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:515781..674318hg38UCSC Ensembl
Innerchr12:624947..783484hg19UCSC Ensembl
Innerchr12:495208..653745hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38158538
hg19158538
hg18158538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176237
SamplesHGDP00937
Known GenesB4GALNT3, NINJ2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556885
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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