A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557023



Internal ID15997746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2105687..2107422hg38UCSC Ensembl
Innerchr12:2214853..2216588hg19UCSC Ensembl
Innerchr12:2085114..2086849hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381736
hg191736
hg181736
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2280n54
Supporting Variantsnssv786467, nssv786432, nssv786434, nssv786473, nssv786463, nssv786438, nssv786449, nssv786452, nssv786471, nssv786428, nssv786437, nssv786468, nssv786450, nssv786443, nssv786459, nssv786441, nssv786455, nssv786448, nssv786433, nssv786475, nssv786430, nssv786436, nssv786465, nssv786451, nssv786469, nssv786458, nssv786461, nssv786470, nssv786429, nssv786462, nssv786454, nssv786431, nssv786453, nssv786447, nssv786466, nssv786472, nssv786444, nssv786456, nssv786474, nssv786457, nssv786440, nssv786460, nssv786446, nssv786435, nssv786464, nssv786445, nssv786439, nssv786442
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557023
Frequency
Sample Size17421
Observed Gain7
Observed Loss41
Observed Complex0
Frequencyn/a


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