A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574242



Internal ID16014965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3601921..3665107hg38UCSC Ensembl
Innerchr17:3505215..3568401hg19UCSC Ensembl
Innerchr17:3451964..3515150hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3863187
hg1963187
hg1863187
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5423n54
Supporting Variantsnssv866457
Samples
Known GenesCTNS, P2RX5-TAX1BP3, SHPK, TAX1BP3, TRPV1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574242
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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