A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575005



Internal ID16362414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41013947..41058469hg38UCSC Ensembl
Innerchr17:39170199..39214721hg19UCSC Ensembl
Innerchr17:36423725..36468247hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3844523
hg1944523
hg1844523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv870546
Samples
Known GenesKRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP2-1, KRTAP2-2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575005
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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