A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516970



Internal ID15444263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:45328579..45525430hg38UCSC Ensembl
Innerchr14:45797782..45994633hg19UCSC Ensembl
Innerchr14:44867532..45064383hg18UCSC Ensembl
Innerchr14:44867532..45064383hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38196852
hg19196852
hg18196852
hg17196852
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv671470, nssv680739, nssv653535, nssv663519, nssv674084, nssv670418, nssv672068, nssv679992, nssv659710, nssv693660, nssv682592, nssv689259, nssv665409, nssv687442, nssv673532, nssv686760, nssv654471, nssv702850, nssv668810
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516970
Frequency
Sample Size2026
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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