A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537255



Internal ID15504571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:82658618..82717637hg38UCSC Ensembl
Innerchr3:82707769..82766788hg19UCSC Ensembl
Innerchr3:82790459..82849478hg18UCSC Ensembl
Innerchr3:82790459..82849478hg17UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3859020
hg1959020
hg1859020
hg1759020
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460734
Supporting Variants
Samples1782681317_A
Known Genes
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)nssv537255
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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