A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv870545



Internal ID15817815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40981309..41029209hg38UCSC Ensembl
Innerchr17:39137561..39185461hg19UCSC Ensembl
Innerchr17:36391087..36438987hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3847901
hg1947901
hg1847901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575004
Supporting Variants
Samples
Known GenesKRT40, KRTAP1-5, 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)nssv870545
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer