A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600117



Internal ID18551712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:30710632..30870530hg38UCSC Ensembl
Innerchr21:32082950..32242849hg19UCSC Ensembl
Innerchr21:31004821..31164720hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38159899
hg19159900
hg18159900
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1059326
Supporting Variants
Samples
Known GenesKRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP7-1, KRTAP8-1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600117
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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