A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469359



Internal ID15182738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39552552..39640897hg38UCSC Ensembl
Innerchr12:39946354..40034699hg19UCSC Ensembl
Innerchr12:38232621..38320966hg18UCSC Ensembl
Innerchr12:38232621..38320966hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3888346
hg1988346
hg1888346
hg1788346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv197n27
Supporting Variantsnssv544250
SamplesHGDP01414
Known GenesABCD2, C12orf40
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)nsv469359
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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