A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv652386



Internal ID15042352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110099666..110224953hg38UCSC Ensembl
Innerchr2:110857243..110982530hg19UCSC Ensembl
Innerchr2:110214532..110339819hg18UCSC Ensembl
Innerchr2:110214618..110339905hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38125288
hg19125288
hg18125288
hg17125288
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515996
Supporting Variants
Samples
Known GenesLINC00116, MALL, NPHP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv652386
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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