A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983264



Internal ID18271772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2685097..2686197hg38UCSC Ensembl
Innerchr12:2794263..2795363hg19UCSC Ensembl
Innerchr12:2664524..2665624hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381101
hg191101
hg181101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1910244, nssv1910247, nssv1910243, nssv1910240, nssv1910242, nssv1910239, nssv1910241, nssv1910246, nssv1910245, nssv1910238
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCACNA1C, CACNA1C-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983264
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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