A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575003



Internal ID16015726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40981021..41029209hg38UCSC Ensembl
Innerchr17:39137273..39185461hg19UCSC Ensembl
Innerchr17:36390799..36438987hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3848189
hg1948189
hg1848189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5590n54
Supporting Variantsnssv870544
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)nsv575003
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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