A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533212



Internal ID15511289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:108011986..108089618hg38UCSC Ensembl
Innerchr12:108405763..108483395hg19UCSC Ensembl
Innerchr12:106929893..107007525hg18UCSC Ensembl
Innerchr12:106908230..106985862hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3877633
hg1977633
hg1877633
hg1777633
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455709
Supporting Variants
SamplesHGDP01384
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)nssv533212
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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