A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946598



Internal ID15893868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:29978351..30620545hg38UCSC Ensembl
Innerchr21:31350669..31992864hg19UCSC Ensembl
Innerchr21:30272540..30914735hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38642195
hg19642196
hg18642196
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587354
Supporting Variants
Samples
Known GenesCLDN17, CLDN8, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP20-1, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, LINC00307, MIR4327
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv946598
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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