A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599529



Internal ID16386938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:118404850..118685011hg38UCSC Ensembl
Innerchr5:117740545..118020706hg19UCSC Ensembl
Innerchr5:117768444..118048605hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38280162
hg19280162
hg18280162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153369
SamplesNINDS_2
Known GenesLOC101927280, LOC102467225
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599529
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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