A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600115



Internal ID18551710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:30318003..30993921hg38UCSC Ensembl
Innerchr21:31690321..32366240hg19UCSC Ensembl
Innerchr21:30612192..31288111hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38675919
hg19675920
hg18675920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057467
Supporting Variants
Samples
Known GenesKRTAP11-1, 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, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, MIR4327
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600115
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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