A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544058



Internal ID15507569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7844294..7973149hg38UCSC Ensembl
Innerchr12:7996890..8125745hg19UCSC Ensembl
Innerchr12:7888157..8017012hg18UCSC Ensembl
Innerchr12:7888157..8017012hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38128856
hg19128856
hg18128856
hg17128856
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469044
Supporting Variants
SamplesHGDP00679
Known GenesSLC2A14, SLC2A3
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)nssv544058
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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