A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599195



Internal ID16386604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:103647277..103961076hg38UCSC Ensembl
Innerchr5:102982978..103296777hg19UCSC Ensembl
Innerchr5:103010877..103324676hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38313800
hg19313800
hg18313800
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039634
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599195
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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