A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966878



Internal ID18602107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:117548061..117549290hg38UCSC Ensembl
Innerchr7:117188115..117189344hg19UCSC Ensembl
Innerchr7:116975351..116976580hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg381230
hg191230
hg181230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2475856, nssv2475849, nssv2475855, nssv2475848, nssv2475850, nssv2475847, nssv2475852, nssv2475853, nssv2475854, nssv2475851
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCFTR
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966878
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