A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557034



Internal ID15997757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2116879..2142107hg38UCSC Ensembl
Innerchr12:2226045..2251273hg19UCSC Ensembl
Innerchr12:2096306..2121534hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3825229
hg1925229
hg1825229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2282n54
Supporting Variantsnssv1175402
SamplesHGDP01007
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557034
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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