A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697073



Internal ID15087039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:218286495..218403058hg38UCSC Ensembl
Innerchr2:219151218..219267781hg19UCSC Ensembl
Innerchr2:218859462..218976025hg18UCSC Ensembl
Innerchr2:218976723..219093286hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38116564
hg19116564
hg18116564
hg17116564
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519829
Supporting Variants
Samples
Known GenesC2orf62, CTDSP1, MIR26B, MIR6810, PNKD, SLC11A1, TMBIM1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697073
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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