A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533522



Internal ID15165107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32557696..33104890hg38UCSC Ensembl
Innerchr2:32782763..33329957hg19UCSC Ensembl
Innerchr2:32636267..33183461hg18UCSC Ensembl
Innerchr2:32694414..33241608hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38547195
hg19547195
hg18547195
hg17547195
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456119
Supporting Variants
SamplesNINDS_147
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, TTC27
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)nssv533522
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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