A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597904



Internal ID16038627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42629214..42630356hg38UCSC Ensembl
Innerchr5:42629316..42630458hg19UCSC Ensembl
Innerchr5:42665073..42666215hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381143
hg191143
hg181143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029342
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597904
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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