A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1774841



Internal ID17879118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:86505280..86508375hg38UCSC Ensembl
Innerchr1:86970963..86974058hg19UCSC Ensembl
Innerchr1:86743551..86746646hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg383096
hg193096
hg183096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946040
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)nssv1774841
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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