A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597496



Internal ID16384905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21606408..21689728hg38UCSC Ensembl
Innerchr5:21606517..21689837hg19UCSC Ensembl
Innerchr5:21642274..21725594hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3883321
hg1983321
hg1883321
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1027349
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597496
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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