A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597908



Internal ID16038631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42629911..42630528hg38UCSC Ensembl
Innerchr5:42630013..42630630hg19UCSC Ensembl
Innerchr5:42665770..42666387hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38618
hg19618
hg18618
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9735n54
Supporting Variantsnssv1029346, nssv1029347
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597908
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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