A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533772



Internal ID15504186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105124547..105167162hg38UCSC Ensembl
Innerchr14:105590884..105633499hg19UCSC Ensembl
Innerchr14:104661929..104704544hg18UCSC Ensembl
Innerchr14:104661929..104704544hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3842616
hg1942616
hg1842616
hg1742616
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456461
Supporting Variants
Samples1780862585_A
Known GenesJAG2, MIR6765
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)nssv533772
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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