A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469449



Internal ID15182828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11668528..11713886hg38UCSC Ensembl
Innerchr2:11808654..11854012hg19UCSC Ensembl
Innerchr2:11726105..11771463hg18UCSC Ensembl
Innerchr2:11759252..11804610hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3845359
hg1945359
hg1845359
hg1745359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544313
SamplesHGDP01072
Known GenesLPIN1, NTSR2
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)nsv469449
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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