A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600366



Internal ID16041089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177390635..177469411hg38UCSC Ensembl
Innerchr5:176817636..176896412hg19UCSC Ensembl
Innerchr5:176750242..176829018hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3878777
hg1978777
hg1878777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10184n54
Supporting Variantsnssv1154728
SamplesHGDP00614
Known GenesDBN1, F12, GRK6, PFN3, PRR7, PRR7-AS1, SLC34A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600366
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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