A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535794



Internal ID15163923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110114088..110224953hg38UCSC Ensembl
Innerchr2:110871665..110982530hg19UCSC Ensembl
Innerchr2:110228954..110339819hg18UCSC Ensembl
Innerchr2:110229040..110339905hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38110866
hg19110866
hg18110866
hg17110866
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458940
Supporting Variants
SamplesHGDP01271
Known GenesLINC00116, MALL, NPHP1
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)nssv535794
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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