A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2278320



Internal ID17885250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:43483352..43485724hg38UCSC Ensembl
Innerchr3:43524844..43527216hg19UCSC Ensembl
Innerchr3:43499848..43502220hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382373
hg192373
hg182373
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963314
Supporting Variants
SamplesHGDP01307
Known GenesANO10
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)nssv2278320
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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