A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536768



Internal ID15155520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240662330..240795337hg38UCSC Ensembl
Innerchr2:241601747..241734754hg19UCSC Ensembl
Innerchr2:241250420..241383427hg18UCSC Ensembl
Innerchr2:241321737..241454744hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38133008
hg19133008
hg18133008
hg17133008
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460162
Supporting Variants
Samples1780854219_A
Known GenesAQP12A, AQP12B, KIF1A
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)nssv536768
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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