A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460100



Internal ID15520165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216957190..216999878hg38UCSC Ensembl
Innerchr2:217821913..217864601hg19UCSC Ensembl
Innerchr2:217530158..217572846hg18UCSC Ensembl
Innerchr2:217647419..217690107hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3842689
hg1942689
hg1842689
hg1742689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536719
SamplesHGDP00062
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)nsv460100
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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