A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600297



Internal ID16387706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172913819..172928036hg38UCSC Ensembl
Innerchr5:172340822..172355039hg19UCSC Ensembl
Innerchr5:172273428..172287645hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3814218
hg1914218
hg1814218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153127
SamplesHGDP01001
Known GenesERGIC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600297
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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