A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464456



Internal ID15524521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:53392993..53522557hg38UCSC Ensembl
Innerchr7:53460686..53590250hg19UCSC Ensembl
Innerchr7:53428180..53557744hg18UCSC Ensembl
Innerchr7:53234895..53364459hg17UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38129565
hg19129565
hg18129565
hg17129565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv812n27
Supporting Variantsnssv540371
SamplesHGDP00567
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)nsv464456
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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