A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544143



Internal ID15504153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28375375..28429860hg38UCSC Ensembl
Innerchr12:28528308..28582793hg19UCSC Ensembl
Innerchr12:28419575..28474060hg18UCSC Ensembl
Innerchr12:28419575..28474060hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3854486
hg1954486
hg1854486
hg1754486
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469182
Supporting Variants
Samples1780862576_A
Known GenesCCDC91
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)nssv544143
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer