A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533775



Internal ID15160881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105149311..105219528hg38UCSC Ensembl
Innerchr14:105615648..105685865hg19UCSC Ensembl
Innerchr14:104686693..104756910hg18UCSC Ensembl
Innerchr14:104686693..104756910hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3870218
hg1970218
hg1870218
hg1770218
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456467
Supporting Variants
SamplesHGDP00679
Known GenesBRF1, JAG2, MIR6765, NUDT14
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)nssv533775
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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