A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597902



Internal ID16038625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42629071..42630528hg38UCSC Ensembl
Innerchr5:42629173..42630630hg19UCSC Ensembl
Innerchr5:42664930..42666387hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381458
hg191458
hg181458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9734n54
Supporting Variantsnssv1029340
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597902
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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