A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517700



Internal ID15098307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:91272737..91297293hg38UCSC Ensembl
Innerchr14:91739081..91763637hg19UCSC Ensembl
Innerchr14:90808834..90833390hg18UCSC Ensembl
Innerchr14:90808834..90833390hg17UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3824557
hg1924557
hg1824557
hg1724557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv688905, nssv652893, nssv662140, nssv663796, nssv666750, nssv667342
Samples
Known GenesCCDC88C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517700
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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