A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059258



Internal ID19148477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:30710632..30880903hg38UCSC Ensembl
Innerchr21:32082950..32253222hg19UCSC Ensembl
Innerchr21:31004821..31175093hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38170272
hg19170273
hg18170273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4424n100
Supporting Variantsnssv3600118
Samples
Known GenesKRTAP11-1, KRTAP21-1, 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)nsv1059258
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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