A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536585



Internal ID15159174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:166170659..166216180hg38UCSC Ensembl
Innerchr2:167027169..167072690hg19UCSC Ensembl
Innerchr2:166735415..166780936hg18UCSC Ensembl
Innerchr2:166852676..166898197hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3845522
hg1945522
hg1845522
hg1745522
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459937
Supporting Variants
SamplesHGDP00251
Known GenesSCN9A
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)nssv536585
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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