A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537244



Internal ID15502667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75379524..75519068hg38UCSC Ensembl
Innerchr3:75428675..75568219hg19UCSC Ensembl
Innerchr3:75511365..75650909hg18UCSC Ensembl
Innerchr3:75511365..75650909hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38139545
hg19139545
hg18139545
hg17139545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460709
Supporting Variants
Samples1780854483_A
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)nssv537244
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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