A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1804841



Internal ID17847562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:166744158..166748341hg38UCSC Ensembl
Innerchr1:166713395..166717578hg19UCSC Ensembl
Innerchr1:164980019..164984202hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg384184
hg194184
hg184184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946485
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)nssv1804841
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