A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694763



Internal ID15084729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105312968..105733242hg38UCSC Ensembl
Innerchr14:105779305..106199579hg19UCSC Ensembl
Innerchr14:104850350..105270624hg18UCSC Ensembl
Innerchr14:104850350..105270624hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38420275
hg19420275
hg18420275
hg17420275
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517055
Supporting Variants
Samples
Known GenesBRF1, C14orf80, CRIP1, CRIP2, ELK2AP, MIR8071-1, MIR8071-2, MTA1, PACS2, TEX22, TMEM121
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694763
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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