A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597924



Internal ID16038647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42630173..42630866hg38UCSC Ensembl
Innerchr5:42630275..42630968hg19UCSC Ensembl
Innerchr5:42666032..42666725hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38694
hg19694
hg18694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9736n54
Supporting Variantsnssv1029364, nssv1029363
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597924
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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