A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460705



Internal ID15520770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75339010..75519068hg38UCSC Ensembl
Innerchr3:75388161..75568219hg19UCSC Ensembl
Innerchr3:75470851..75650909hg18UCSC Ensembl
Innerchr3:75470851..75650909hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38180059
hg19180059
hg18180059
hg17180059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv609n27
Supporting Variantsnssv537240
SamplesHGDP00902
Known GenesFAM86DP
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)nsv460705
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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