A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574239



Internal ID16014962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3601261..3658102hg38UCSC Ensembl
Innerchr17:3504555..3561396hg19UCSC Ensembl
Innerchr17:3451304..3508145hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3856842
hg1956842
hg1856842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5423n54
Supporting Variantsnssv866452, nssv866450, nssv866451
Samples
Known GenesCTNS, SHPK, TRPV1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574239
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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