A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945382



Internal ID18592233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235537140..235542252hg38UCSC Ensembl
Innerchr1:235700440..235705552hg19UCSC Ensembl
Innerchr1:233767063..233772175hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg385113
hg195113
hg185113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1825135, nssv1825138, nssv1825140, nssv1825133, nssv1825139, nssv1825136, nssv1825134, nssv1825137, nssv1825132, nssv1825131
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)nsv945382
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