A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597889



Internal ID16038612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42628506..42630031hg38UCSC Ensembl
Innerchr5:42628608..42630133hg19UCSC Ensembl
Innerchr5:42664365..42665890hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381526
hg191526
hg181526
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9732n54
Supporting Variantsnssv1029147
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597889
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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