A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1781884



Internal ID17780274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109046997..109050338hg38UCSC Ensembl
Innerchr1:109589619..109592960hg19UCSC Ensembl
Innerchr1:109391142..109394483hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383342
hg193342
hg183342
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946129
Supporting Variants
SamplesHGDP00665
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)nssv1781884
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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