A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533763



Internal ID15161000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104557175..104703666hg38UCSC Ensembl
Innerchr14:105023512..105170003hg19UCSC Ensembl
Innerchr14:104094557..104241048hg18UCSC Ensembl
Innerchr14:104094557..104241048hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38146492
hg19146492
hg18146492
hg17146492
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456445
Supporting Variants
SamplesHGDP00696
Known GenesC14orf180, INF2, MIR4710, TMEM179
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv533763
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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