A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537389



Internal ID15157023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151796802..151877081hg38UCSC Ensembl
Innerchr3:151514590..151594869hg19UCSC Ensembl
Innerchr3:152997280..153077559hg18UCSC Ensembl
Innerchr3:152997288..153077567hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3880280
hg1980280
hg1880280
hg1780280
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460909
Supporting Variants
Samples1780862401_A
Known GenesAADAC, MIR548H2, SUCNR1
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)nssv537389
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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