A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5423n54



Internal ID22773318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3601261..3665107hg38UCSC Ensembl
chr17:3504555..3568401hg19UCSC Ensembl
chr17:3451304..3515150hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3863847
hg1963847
hg1863847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574243, nsv574240, nsv574241, nsv574239, nsv574242
Samples1780854495_A, 1780854416_A, 1780862528_A
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)dgv5423n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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