A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533193



Internal ID15503915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:90798358..90853425hg38UCSC Ensembl
Innerchr12:91192135..91247202hg19UCSC Ensembl
Innerchr12:89716266..89771333hg18UCSC Ensembl
Innerchr12:89694603..89749670hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3855068
hg1955068
hg1855068
hg1755068
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455685
Supporting Variants
Samples1780862459_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)nssv533193
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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