A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535142



Internal ID15164031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64879216..64919312hg38UCSC Ensembl
Innerchr2:65106350..65146446hg19UCSC Ensembl
Innerchr2:64959854..64999950hg18UCSC Ensembl
Innerchr2:65018001..65058097hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3840097
hg1940097
hg1840097
hg1740097
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458108
Supporting Variants
SamplesHGDP01287
Known GenesLOC400958
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)nssv535142
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