A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534501



Internal ID15511225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45253003..45314247hg38UCSC Ensembl
Innerchr2:45480142..45541386hg19UCSC Ensembl
Innerchr2:45333646..45394890hg18UCSC Ensembl
Innerchr2:45391793..45453037hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3861245
hg1961245
hg1861245
hg1761245
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457274
Supporting Variants
SamplesHGDP01373
Known GenesLINC01121
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)nssv534501
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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