A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699000



Internal ID15088966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:91935241..91935290hg38UCSC Ensembl
Innerchr14:92401585..92401634hg19UCSC Ensembl
Innerchr14:91471338..91471387hg18UCSC Ensembl
Innerchr14:91471338..91471387hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
hg1750
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523266
Supporting Variants
Samples
Known GenesFBLN5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699000
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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