A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459141



Internal ID15519206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120687644..120718260hg38UCSC Ensembl
Innerchr2:121445220..121475836hg19UCSC Ensembl
Innerchr2:121161690..121192306hg18UCSC Ensembl
Innerchr2:121161450..121192066hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3830617
hg1930617
hg1830617
hg1730617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535961
SamplesHGDP01067
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)nsv459141
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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