A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460167



Internal ID15173546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240810727..241018260hg38UCSC Ensembl
Innerchr2:241750144..241957677hg19UCSC Ensembl
Innerchr2:241398817..241606350hg18UCSC Ensembl
Innerchr2:241470134..241677667hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38207534
hg19207534
hg18207534
hg17207534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536771
SamplesHGDP00341
Known GenesAGXT, C2orf54, KIF1A, LOC200772, SNED1
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)nsv460167
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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