A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464237



Internal ID15524302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:45653..113319hg38UCSC Ensembl
Innerchr7:45653..113319hg19UCSC Ensembl
Innerchr7:140736..208402hg18UCSC Ensembl
Innerchr7:140736..208402hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3867667
hg1967667
hg1867667
hg1767667
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv795n27
Supporting Variantsnssv540182
SamplesHGDP00538
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)nsv464237
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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