A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544252



Internal ID15162690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39552552..39648418hg38UCSC Ensembl
Innerchr12:39946354..40042220hg19UCSC Ensembl
Innerchr12:38232621..38328487hg18UCSC Ensembl
Innerchr12:38232621..38328487hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3895867
hg1995867
hg1895867
hg1795867
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469361
Supporting Variants
SamplesHGDP00994
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)nssv544252
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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