A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597907



Internal ID16038630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42629896..42650282hg38UCSC Ensembl
Innerchr5:42629998..42650384hg19UCSC Ensembl
Innerchr5:42665755..42686141hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3820387
hg1920387
hg1820387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029345
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597907
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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