A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2287364



Internal ID17888602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:98658103..98660677hg38UCSC Ensembl
Innerchr3:98376947..98379521hg19UCSC Ensembl
Innerchr3:99859637..99862211hg18UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg382575
hg192575
hg182575
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967042
Supporting Variants
SamplesHGDP01307
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)nssv2287364
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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