A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600133



Internal ID16040856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:157462089..157493903hg38UCSC Ensembl
Innerchr5:156889097..156920911hg19UCSC Ensembl
Innerchr5:156821675..156853489hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3831815
hg1931815
hg1831815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154006
SamplesNINDS_64
Known GenesADAM19, NIPAL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600133
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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