A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460120



Internal ID15520185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230549973..230568522hg38UCSC Ensembl
Innerchr2:231414688..231433237hg19UCSC Ensembl
Innerchr2:231122932..231141481hg18UCSC Ensembl
Innerchr2:231240193..231258742hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3818550
hg1918550
hg1818550
hg1718550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536734
Samples1780854325_A
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)nsv460120
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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