A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468965



Internal ID15182344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1798687..1822230hg38UCSC Ensembl
Innerchr12:1907853..1931396hg19UCSC Ensembl
Innerchr12:1778114..1801657hg18UCSC Ensembl
Innerchr12:1778114..1801657hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3823544
hg1923544
hg1823544
hg1723544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv175n27
Supporting Variantsnssv543990
SamplesHGDP00546
Known GenesCACNA2D4, LRTM2
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)nsv468965
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