A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv664457



Internal ID15401109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111945216..112038331hg38UCSC Ensembl
Innerchr2:112702793..112795908hg19UCSC Ensembl
Innerchr2:112419264..112512379hg18UCSC Ensembl
Innerchr2:112419024..112512139hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3893116
hg1993116
hg1893116
hg1793116
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515698
Supporting Variants
Samples
Known GenesMERTK
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv664457
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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