A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983344



Internal ID18618538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:68035395..68037778hg38UCSC Ensembl
Innerchr12:68429175..68431558hg19UCSC Ensembl
Innerchr12:66715442..66717825hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382384
hg192384
hg182384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1938047, nssv1938045, nssv1938049, nssv1938050, nssv1938052, nssv1938051, nssv1938048, nssv1938046, nssv1938054, nssv1938053
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983344
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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