A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459957



Internal ID15520022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:182644610..182706322hg38UCSC Ensembl
Innerchr2:183509337..183571049hg19UCSC Ensembl
Innerchr2:183217582..183279294hg18UCSC Ensembl
Innerchr2:183334843..183396555hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3861713
hg1961713
hg1861713
hg1761713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536599
SamplesHGDP00819
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)nsv459957
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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