A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599943



Internal ID16040666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:148268947..148308472hg38UCSC Ensembl
Innerchr5:147648510..147688035hg19UCSC Ensembl
Innerchr5:147628703..147668228hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3839526
hg1939526
hg1839526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10111n54
Supporting Variantsnssv1153604
SamplesHGDP01309
Known GenesLOC102546294, SPINK13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599943
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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