A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597893



Internal ID16038616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42628506..42630696hg38UCSC Ensembl
Innerchr5:42628608..42630798hg19UCSC Ensembl
Innerchr5:42664365..42666555hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382191
hg192191
hg182191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9733n54
Supporting Variantsnssv1029153, nssv1029152, nssv1029151
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597893
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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