A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544137



Internal ID15160119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27288899..27339805hg38UCSC Ensembl
Innerchr12:27441832..27492738hg19UCSC Ensembl
Innerchr12:27333099..27384005hg18UCSC Ensembl
Innerchr12:27333099..27384005hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3850907
hg1950907
hg1850907
hg1750907
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469175
Supporting Variants
SamplesHGDP00557
Known GenesARNTL2, STK38L
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)nssv544137
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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