A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698250



Internal ID15434902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31773541..31798117hg38UCSC Ensembl
Innerchr14:32242747..32267323hg19UCSC Ensembl
Innerchr14:31312498..31337074hg18UCSC Ensembl
Innerchr14:31312498..31337074hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3824577
hg1924577
hg1824577
hg1724577
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521631
Supporting Variants
Samples
Known GenesNUBPL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698250
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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