A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537388



Internal ID15165444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151796802..151864407hg38UCSC Ensembl
Innerchr3:151514590..151582195hg19UCSC Ensembl
Innerchr3:152997280..153064885hg18UCSC Ensembl
Innerchr3:152997288..153064893hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3867606
hg1967606
hg1867606
hg1767606
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460908
Supporting Variants
SamplesNINDS_204
Known GenesAADAC, MIR548H2
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)nssv537388
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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