A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970944



Internal ID18606166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:135444505..135445505hg38UCSC Ensembl
Innerchr7:135129253..135130253hg19UCSC Ensembl
Innerchr7:134779793..134780793hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2479016, nssv2479013, nssv2479009, nssv2479008, nssv2479015, nssv2479007, nssv2479011, nssv2479010, nssv2479012, nssv2479014
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCNOT4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970944
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