A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533688



Internal ID15511188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:83380429..83411565hg38UCSC Ensembl
Innerchr14:83846773..83877909hg19UCSC Ensembl
Innerchr14:82916526..82947662hg18UCSC Ensembl
Innerchr14:82916526..82947662hg17UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg3831137
hg1931137
hg1831137
hg1731137
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456353
Supporting Variants
SamplesHGDP01368
Known Genes
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)nssv533688
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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