A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557024



Internal ID15997747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2105687..2107792hg38UCSC Ensembl
Innerchr12:2214853..2216958hg19UCSC Ensembl
Innerchr12:2085114..2087219hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382106
hg192106
hg182106
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2280n54
Supporting Variantsnssv786488, nssv786479, nssv786478, nssv786483, nssv786477, nssv786489, nssv786486, nssv786484, nssv786487, nssv786480, nssv786481, nssv786476, nssv786485, nssv786482
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557024
Frequency
Sample Size17421
Observed Gain1
Observed Loss13
Observed Complex0
Frequencyn/a


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