A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597890



Internal ID16038613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42628506..42630173hg38UCSC Ensembl
Innerchr5:42628608..42630275hg19UCSC Ensembl
Innerchr5:42664365..42666032hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381668
hg191668
hg181668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9732n54
Supporting Variantsnssv1029148
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597890
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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