A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1825034



Internal ID17529860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235110214..235112059hg38UCSC Ensembl
Innerchr1:235273529..235275374hg19UCSC Ensembl
Innerchr1:233340152..233341997hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg381846
hg191846
hg181846
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945381
Supporting Variants
SamplesHGDP01307
Known GenesTOMM20
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)nssv1825034
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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