A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544356



Internal ID15504071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84079772..84366825hg38UCSC Ensembl
Innerchr12:84473551..84760604hg19UCSC Ensembl
Innerchr12:82997682..83284735hg18UCSC Ensembl
Innerchr12:82976019..83263072hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38287054
hg19287054
hg18287054
hg17287054
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469500
Supporting Variants
Samples1780862540_A
Known GenesMIR548T
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)nssv544356
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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