A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694605



Internal ID15084571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67674292..67738159hg38UCSC Ensembl
Innerchr14:68141009..68204876hg19UCSC Ensembl
Innerchr14:67210762..67274629hg18UCSC Ensembl
Innerchr14:67210762..67274629hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3863868
hg1963868
hg1863868
hg1763868
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521832
Supporting Variants
Samples
Known GenesRDH11, RDH12, VTI1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694605
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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