A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176247



Internal ID15531365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14921379..14939445hg38UCSC Ensembl
Innerchr12:15074313..15092379hg19UCSC Ensembl
Innerchr12:14965580..14983646hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3818067
hg1918067
hg1818067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557612
Supporting Variants
SamplesHGDP01088
Known GenesERP27
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176247
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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