A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2285523



Internal ID17504864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:74136377..74136877hg38UCSC Ensembl
Innerchr3:74185528..74186028hg19UCSC Ensembl
Innerchr3:74268218..74268718hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967024
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)nssv2285523
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