A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455723



Internal ID15515788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115209706..115234477hg38UCSC Ensembl
Innerchr12:115647511..115672282hg19UCSC Ensembl
Innerchr12:114131894..114156665hg18UCSC Ensembl
Innerchr12:114110231..114135002hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3824772
hg1924772
hg1824772
hg1724772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533221
Samples1780862015_A
Known Genes
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)nsv455723
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