A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704282



Internal ID15094248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241184874..241223944hg38UCSC Ensembl
Innerchr2:242124289..242163359hg19UCSC Ensembl
Innerchr2:241772962..241812032hg18UCSC Ensembl
Innerchr2:241844279..241883349hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3839071
hg1939071
hg1839071
hg1739071
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527790
Supporting Variants
Samples
Known GenesANO7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704282
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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