A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599961



Internal ID16040684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150777798..150933461hg38UCSC Ensembl
Innerchr5:150157360..150313023hg19UCSC Ensembl
Innerchr5:150137553..150293216hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38155664
hg19155664
hg18155664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10114n54
Supporting Variantsnssv1043287, nssv1043286
Samples
Known GenesIRGM, SMIM3, ZNF300, ZNF300P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599961
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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