A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536371



Internal ID15511471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141533642..141588005hg38UCSC Ensembl
Innerchr2:142291211..142345574hg19UCSC Ensembl
Innerchr2:142007681..142062044hg18UCSC Ensembl
Innerchr2:142124943..142179306hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3854364
hg1954364
hg1854364
hg1754364
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459640
Supporting Variants
SamplesNINDS_101
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)nssv536371
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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