A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2275452



Internal ID17865514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:27623427..27624442hg38UCSC Ensembl
Innerchr3:27664918..27665933hg19UCSC Ensembl
Innerchr3:27639922..27640937hg18UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg381016
hg191016
hg181016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963304
Supporting Variants
SamplesHGDP01284
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)nssv2275452
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