A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533696



Internal ID15506419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:36882138..37008181hg38UCSC Ensembl
Innerchr2:37109281..37235324hg19UCSC Ensembl
Innerchr2:36962785..37088828hg18UCSC Ensembl
Innerchr2:37020932..37146975hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38126044
hg19126044
hg18126044
hg17126044
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456363
Supporting Variants
SamplesHGDP00476
Known GenesHEATR5B, STRN
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)nssv533696
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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