A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976556



Internal ID18611762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3208533..3213746hg38UCSC Ensembl
Innerchr12:3317699..3322912hg19UCSC Ensembl
Innerchr12:3187960..3193173hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg385214
hg195214
hg185214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1909520, nssv1909523, nssv1909518, nssv1909524, nssv1909519, nssv1909515, nssv1909522, nssv1909516, nssv1909517, nssv1909521
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTSPAN9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976556
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