A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537384



Internal ID15156166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151796802..151828253hg38UCSC Ensembl
Innerchr3:151514590..151546041hg19UCSC Ensembl
Innerchr3:152997280..153028731hg18UCSC Ensembl
Innerchr3:152997288..153028739hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3831452
hg1931452
hg1831452
hg1731452
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460904
Supporting Variants
Samples1780854573_A
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)nssv537384
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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