A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598358



Internal ID16385767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:64399736..64405443hg38UCSC Ensembl
Innerchr5:63695563..63701270hg19UCSC Ensembl
Innerchr5:63731319..63737026hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg385708
hg195708
hg185708
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9820n54
Supporting Variantsnssv1034362, nssv1034361, nssv1034360
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598358
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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