A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533760



Internal ID15503532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40655262..40837684hg38UCSC Ensembl
Innerchr2:40882402..41064824hg19UCSC Ensembl
Innerchr2:40735906..40918328hg18UCSC Ensembl
Innerchr2:40794053..40976475hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38182423
hg19182423
hg18182423
hg17182423
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456441
Supporting Variants
Samples1780862310_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)nssv533760
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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