A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597925



Internal ID16038648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42728729..43237086hg38UCSC Ensembl
Innerchr5:42728831..43237188hg19UCSC Ensembl
Innerchr5:42764588..43272945hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38508358
hg19508358
hg18508358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153532
Samples1788485590_A
Known GenesANXA2R, CCDC152, FLJ32255, LOC100132356, LOC100506639, LOC153684, LOC648987, NIM1, SEPP1, ZNF131
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597925
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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