A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976651



Internal ID18265171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110426752..110436265hg38UCSC Ensembl
Innerchr12:110864557..110874070hg19UCSC Ensembl
Innerchr12:109348940..109358453hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg389514
hg199514
hg189514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1944727, nssv1944731, nssv1944729, nssv1944730, nssv1944726, nssv1944728, nssv1944732, nssv1944734, nssv1944725, nssv1944733
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesARPC3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976651
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