A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600116



Internal ID18898397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:30363490..30454545hg38UCSC Ensembl
Innerchr21:31735808..31826863hg19UCSC Ensembl
Innerchr21:30657679..30748734hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3891056
hg1991056
hg1891056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060328
Supporting Variants
Samples
Known GenesKRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, MIR4327
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600116
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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