A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468916



Internal ID15182295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:1375171..1515778hg38UCSC Ensembl
Innerchr2:1378943..1519550hg19UCSC Ensembl
Innerchr2:1357950..1498557hg18UCSC Ensembl
Innerchr2:1357950..1498557hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38140608
hg19140608
hg18140608
hg17140608
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543960
SamplesHGDP00766
Known GenesTPO
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)nsv468916
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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