A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522954



Internal ID15450247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92676189..92694177hg38UCSC Ensembl
Innerchr14:93142534..93160522hg19UCSC Ensembl
Innerchr14:92212287..92230275hg18UCSC Ensembl
Innerchr14:92212287..92230275hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3817989
hg1917989
hg1817989
hg1717989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698622
Samples
Known GenesRIN3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522954
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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