A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460067



Internal ID15520132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211448675..211513517hg38UCSC Ensembl
Innerchr2:212313400..212378242hg19UCSC Ensembl
Innerchr2:212021645..212086487hg18UCSC Ensembl
Innerchr2:212138906..212203748hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3864843
hg1964843
hg1864843
hg1764843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536692
SamplesHGDP01177
Known GenesERBB4
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)nsv460067
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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