A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557050



Internal ID15997773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2148329hg38UCSC Ensembl
Innerchr12:2245636..2257495hg19UCSC Ensembl
Innerchr12:2115897..2127756hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3811860
hg1911860
hg1811860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2287n54
Supporting Variantsnssv786550, nssv786558, nssv786555, nssv786551, nssv786569, nssv786560, nssv786556, nssv786552, nssv786563, nssv786549, nssv786559, nssv786554, nssv786567, nssv786561, nssv786566, nssv786564, nssv786562, nssv786565, nssv786557, nssv786553, nssv786568
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557050
Frequency
Sample Size17421
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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