A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543998



Internal ID15159309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2176565hg38UCSC Ensembl
Innerchr12:2245636..2285731hg19UCSC Ensembl
Innerchr12:2115897..2155992hg18UCSC Ensembl
Innerchr12:2115897..2155992hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3840096
hg1940096
hg1840096
hg1740096
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468973
Supporting Variants
SamplesHGDP00315
Known GenesCACNA1C
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)nssv543998
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