A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv870543



Internal ID15817813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40980722..41065044hg38UCSC Ensembl
Innerchr17:39136974..39221296hg19UCSC Ensembl
Innerchr17:36390500..36474822hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3884323
hg1984323
hg1884323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575002
Supporting Variants
Samples
Known GenesKRT40, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP3-1, KRTAP3-2, KRTAP3-3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv870543
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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