A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533183



Internal ID15504311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84855439..84945475hg38UCSC Ensembl
Innerchr12:85249218..85339254hg19UCSC Ensembl
Innerchr12:83773349..83863385hg18UCSC Ensembl
Innerchr12:83751686..83841722hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3890037
hg1990037
hg1890037
hg1790037
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455667
Supporting Variants
Samples1782681093_A
Known GenesSLC6A15
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)nssv533183
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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