A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598321



Internal ID16385730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:61332019..61334076hg38UCSC Ensembl
Innerchr5:60627846..60629903hg19UCSC Ensembl
Innerchr5:60663603..60665660hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg382058
hg192058
hg182058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9813n54
Supporting Variantsnssv1034204
Samples
Known GenesZSWIM6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598321
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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