A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597916



Internal ID16038639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42630031..42630636hg38UCSC Ensembl
Innerchr5:42630133..42630738hg19UCSC Ensembl
Innerchr5:42665890..42666495hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38606
hg19606
hg18606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9735n54
Supporting Variantsnssv1029355
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597916
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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