A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557063



Internal ID15997786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2138013..2148329hg38UCSC Ensembl
Innerchr12:2247179..2257495hg19UCSC Ensembl
Innerchr12:2117440..2127756hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3810317
hg1910317
hg1810317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2287n54
Supporting Variantsnssv786636, nssv786668, nssv786651, nssv786643, nssv786655, nssv786640, nssv786647, nssv786633, nssv786654, nssv786631, nssv786637, nssv786665, nssv786667, nssv786635, nssv786658, nssv786659, nssv786645, nssv786648, nssv786663, nssv786646, nssv786666, nssv786652, nssv786649, nssv786644, nssv786634, nssv786632, nssv786664, nssv786642, nssv786641, nssv786657, nssv786660, nssv786650, nssv786662, nssv786656, nssv786653, nssv786639, nssv786638, nssv786661
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557063
Frequency
Sample Size17421
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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