A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2285162



Internal ID17834097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:70751253..70753098hg38UCSC Ensembl
Innerchr3:70800404..70802249hg19UCSC Ensembl
Innerchr3:70883094..70884939hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg381846
hg191846
hg181846
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967020
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)nssv2285162
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