A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537327



Internal ID15502277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:116607951..116635978hg38UCSC Ensembl
Innerchr3:116326798..116354825hg19UCSC Ensembl
Innerchr3:117809488..117837515hg18UCSC Ensembl
Innerchr3:117809488..117837515hg17UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3828028
hg1928028
hg1828028
hg1728028
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460826
Supporting Variants
Samples1780854279_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)nssv537327
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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