A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599168



Internal ID16386577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100223088..100410063hg38UCSC Ensembl
Innerchr5:99558792..99745767hg19UCSC Ensembl
Innerchr5:99586691..99773666hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38186976
hg19186976
hg18186976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039611
Samples
Known GenesLOC100133050
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599168
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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