A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702973



Internal ID15092939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111893739..111980985hg38UCSC Ensembl
Innerchr2:112651316..112738562hg19UCSC Ensembl
Innerchr2:112367787..112455033hg18UCSC Ensembl
Innerchr2:112367547..112454793hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3887247
hg1987247
hg1887247
hg1787247
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526647
Supporting Variants
Samples
Known GenesMERTK
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702973
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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