A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692647



Internal ID15429299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34760474..34765688hg38UCSC Ensembl
Innerchr14:35229680..35234894hg19UCSC Ensembl
Innerchr14:34299431..34304645hg18UCSC Ensembl
Innerchr14:34299431..34304645hg17UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg385215
hg195215
hg185215
hg175215
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517328
Supporting Variants
Samples
Known GenesBAZ1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692647
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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