A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973103



Internal ID18608318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93399207..93401838hg38UCSC Ensembl
Innerchr12:93792983..93795614hg19UCSC Ensembl
Innerchr12:92317114..92319745hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382632
hg192632
hg182632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1941071, nssv1941065, nssv1941070, nssv1941062, nssv1941063, nssv1941067, nssv1941064, nssv1941068, nssv1941066, nssv1941069
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNUDT4, NUDT4P1, NUDT4P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973103
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