A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524974



Internal ID15105581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1827822..1828635hg38UCSC Ensembl
Innerchr12:1936988..1937801hg19UCSC Ensembl
Innerchr12:1807249..1808062hg18UCSC Ensembl
Innerchr12:1807249..1808062hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38814
hg19814
hg18814
hg17814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700999
Samples
Known GenesCACNA2D4, LRTM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524974
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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