A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597845



Internal ID16385254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:37369856..37556824hg38UCSC Ensembl
Innerchr5:37369958..37556926hg19UCSC Ensembl
Innerchr5:37405715..37592683hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38186969
hg19186969
hg18186969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029091
Samples
Known GenesNUP155, WDR70
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597845
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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