A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455952



Internal ID15169331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26518683..26525430hg38UCSC Ensembl
Innerchr2:26741551..26748298hg19UCSC Ensembl
Innerchr2:26595055..26601802hg18UCSC Ensembl
Innerchr2:26653202..26659949hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg386748
hg196748
hg186748
hg176748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533400
SamplesHGDP00417
Known GenesOTOF
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)nsv455952
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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