A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537267



Internal ID15504412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:85868139..85957060hg38UCSC Ensembl
Innerchr3:85917289..86006210hg19UCSC Ensembl
Innerchr3:85999979..86088900hg18UCSC Ensembl
Innerchr3:85999979..86088900hg17UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3888922
hg1988922
hg1888922
hg1788922
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460755
Supporting Variants
Samples1782681169_A
Known GenesCADM2
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)nssv537267
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