A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469044



Internal ID15529109
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv183n27
Supporting Variantsnssv544058
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)nsv469044
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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