A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176302



Internal ID15528991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48863009..48891607hg38UCSC Ensembl
Innerchr12:49256792..49285390hg19UCSC Ensembl
Innerchr12:47543059..47571657hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3828599
hg1928599
hg1828599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558832
Supporting Variants
SamplesHGDP00721
Known GenesRND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176302
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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