A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1765205



Internal ID17845002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:23243954..23245267hg38UCSC Ensembl
Innerchr1:23570447..23571760hg19UCSC Ensembl
Innerchr1:23443034..23444347hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381314
hg191314
hg181314
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945824
Supporting Variants
SamplesHGDP01029
Known Genes
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)nssv1765205
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