A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975484



Internal ID18610692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48487717..48488633hg38UCSC Ensembl
Innerchr12:48881500..48882416hg19UCSC Ensembl
Innerchr12:47167767..47168683hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38917
hg19917
hg18917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1927301, nssv1927299, nssv1927304, nssv1927305, nssv1927300, nssv1927303, nssv1927306, nssv1927298, nssv1927302, nssv1927297
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesC12orf54
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975484
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