A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460580



Internal ID15173959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62721844..62728634hg38UCSC Ensembl
Innerchr3:62707519..62714309hg19UCSC Ensembl
Innerchr3:62682559..62689349hg18UCSC Ensembl
Innerchr3:62682559..62689349hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg386791
hg196791
hg186791
hg176791
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537121
SamplesHGDP00932
Known GenesCADPS
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)nsv460580
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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