A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544355



Internal ID15509631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83671545..83760224hg38UCSC Ensembl
Innerchr12:84065324..84154003hg19UCSC Ensembl
Innerchr12:82589455..82678134hg18UCSC Ensembl
Innerchr12:82567792..82656471hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3888680
hg1988680
hg1888680
hg1788680
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469497
Supporting Variants
SamplesHGDP01053
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)nssv544355
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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