A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557045



Internal ID15997768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2140902hg38UCSC Ensembl
Innerchr12:2245636..2250068hg19UCSC Ensembl
Innerchr12:2115897..2120329hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384433
hg194433
hg184433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786527, nssv786531, nssv786530, nssv786529, nssv786538, nssv786539, nssv786532, nssv1175405, nssv786534, nssv786535, nssv786537, nssv786533, nssv786528, nssv1175406, nssv786536, nssv786526
Samples1780862419_A, NINDS_271
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557045
Frequency
Sample Size17421
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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