A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976638



Internal ID18611844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66275788..66278952hg38UCSC Ensembl
Innerchr12:66669568..66672732hg19UCSC Ensembl
Innerchr12:64955835..64958999hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg383165
hg193165
hg183165
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1937373, nssv1937375, nssv1937368, nssv1937371, nssv1937367, nssv1937366, nssv1937370, nssv1937374, nssv1937372, nssv1937369
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)nsv976638
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer