A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537240



Internal ID15508814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75339010..75519068hg38UCSC Ensembl
Innerchr3:75388161..75568219hg19UCSC Ensembl
Innerchr3:75470851..75650909hg18UCSC Ensembl
Innerchr3:75470851..75650909hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38180059
hg19180059
hg18180059
hg17180059
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460705
Supporting Variants
SamplesHGDP00902
Known GenesFAM86DP
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)nssv537240
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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