A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460846



Internal ID15174225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126959326..127013204hg38UCSC Ensembl
Innerchr3:126678169..126732047hg19UCSC Ensembl
Innerchr3:128160859..128214737hg18UCSC Ensembl
Innerchr3:128160867..128214745hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3853879
hg1953879
hg1853879
hg1753879
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537343
SamplesHGDP00614
Known GenesCHCHD6, PLXNA1
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)nsv460846
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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