A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789558



Internal ID15736828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21517476..21535966hg38UCSC Ensembl
Innerchr12:21670410..21688900hg19UCSC Ensembl
Innerchr12:21561677..21580167hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3818491
hg1918491
hg1818491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557743
Supporting Variants
Samples
Known GenesC12orf39, GOLT1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv789558
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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