A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9535n54



Internal ID20142959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1370717..1394962hg38UCSC Ensembl
chr5:1370832..1395077hg19UCSC Ensembl
chr5:1423832..1448077hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3824246
hg1924246
hg1824246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv596855, nsv596856
SamplesHGDP00971, HGDP00830
Known GenesSLC6A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9535n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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