A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464386



Internal ID15524451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:13236436..13276626hg38UCSC Ensembl
Innerchr7:13276061..13316251hg19UCSC Ensembl
Innerchr7:13242586..13282776hg18UCSC Ensembl
Innerchr7:13049301..13089491hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3840191
hg1940191
hg1840191
hg1740191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540309
SamplesHGDP01217
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)nsv464386
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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