A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695286



Internal ID15085252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105312968..105508444hg38UCSC Ensembl
Innerchr14:105779305..105974781hg19UCSC Ensembl
Innerchr14:104850350..105045826hg18UCSC Ensembl
Innerchr14:104850350..105045826hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38195477
hg19195477
hg18195477
hg17195477
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, MTA1, PACS2, TEX22
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695286
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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