A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534490



Internal ID15504795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45253003..45298301hg38UCSC Ensembl
Innerchr2:45480142..45525440hg19UCSC Ensembl
Innerchr2:45333646..45378944hg18UCSC Ensembl
Innerchr2:45391793..45437091hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3845299
hg1945299
hg1845299
hg1745299
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457263
Supporting Variants
Samples1798860279_A
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)nssv534490
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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