A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599944



Internal ID16040667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:148268947..148310137hg38UCSC Ensembl
Innerchr5:147648510..147689700hg19UCSC Ensembl
Innerchr5:147628703..147669893hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3841191
hg1941191
hg1841191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10111n54
Supporting Variantsnssv1153605
SamplesHGDP01095
Known GenesLOC102546294, SPINK13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599944
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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