A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536404



Internal ID15512995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141834991..141879338hg38UCSC Ensembl
Innerchr2:142592560..142636907hg19UCSC Ensembl
Innerchr2:142309030..142353377hg18UCSC Ensembl
Innerchr2:142426292..142470639hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3844348
hg1944348
hg1844348
hg1744348
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459674
Supporting Variants
SamplesNINDS_91
Known GenesLRP1B
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)nssv536404
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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