A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518013



Internal ID15098620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1805107..1843824hg38UCSC Ensembl
Innerchr12:1914273..1952990hg19UCSC Ensembl
Innerchr12:1784534..1823251hg18UCSC Ensembl
Innerchr12:1784534..1823251hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3838718
hg1938718
hg1838718
hg1738718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695425
Samples
Known GenesCACNA2D4, LRTM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518013
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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