A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1801411



Internal ID17830815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158454333..158459838hg38UCSC Ensembl
Innerchr1:158424123..158429628hg19UCSC Ensembl
Innerchr1:156690747..156696252hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg385506
hg195506
hg185506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946440
Supporting Variants
SamplesHGDP00998
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)nssv1801411
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