A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469405



Internal ID15529470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:9674245..9824818hg38UCSC Ensembl
Innerchr2:9814374..9964947hg19UCSC Ensembl
Innerchr2:9731825..9882398hg18UCSC Ensembl
Innerchr2:9764972..9915545hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38150574
hg19150574
hg18150574
hg17150574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544272
SamplesHGDP00573
Known Genes
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)nsv469405
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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