A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052206



Internal ID18794737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2145093..2156955hg38UCSC Ensembl
Innerchr12:2254259..2266121hg19UCSC Ensembl
Innerchr12:2124520..2136382hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3811863
hg1911863
hg1811863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1343n100
Supporting Variantsnssv3519041
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052206
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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