A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574244



Internal ID16361653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3681843..3687590hg38UCSC Ensembl
Innerchr17:3585137..3590884hg19UCSC Ensembl
Innerchr17:3531886..3537633hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg385748
hg195748
hg185748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv866460, nssv866459
Samples
Known GenesP2RX5, P2RX5-TAX1BP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574244
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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