A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1823687



Internal ID17843482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234285280..234287856hg38UCSC Ensembl
Innerchr1:234421026..234423602hg19UCSC Ensembl
Innerchr1:232487649..232490225hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382577
hg192577
hg182577
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945375
Supporting Variants
SamplesHGDP01029
Known GenesSLC35F3
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)nssv1823687
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