A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574240



Internal ID16361649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3601921..3652130hg38UCSC Ensembl
Innerchr17:3505215..3555424hg19UCSC Ensembl
Innerchr17:3451964..3502173hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3850210
hg1950210
hg1850210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5423n54
Supporting Variantsnssv866454, nssv866455, nssv1149676, nssv866453, nssv1149675
Samples1780854416_A, 1780862528_A
Known GenesCTNS, SHPK, TRPV1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574240
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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