A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1764033



Internal ID17869514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:22091083..22092793hg38UCSC Ensembl
Innerchr1:22417576..22419286hg19UCSC Ensembl
Innerchr1:22290163..22291873hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381711
hg191711
hg181711
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945819
Supporting Variants
SamplesHGDP01284
Known GenesCDC42
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1764033
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer