A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558906



Internal ID15999629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52297319..52382359hg38UCSC Ensembl
Innerchr12:52691103..52776143hg19UCSC Ensembl
Innerchr12:50977370..51062410hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3885041
hg1985041
hg1885041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2630n54
Supporting Variantsnssv795973
Samples
Known GenesKRT83, KRT84, KRT85, KRT86
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558906
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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