A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1804048



Internal ID17880614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:166489291..166492413hg38UCSC Ensembl
Innerchr1:166458528..166461650hg19UCSC Ensembl
Innerchr1:164725152..164728274hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg383123
hg193123
hg183123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946484
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)nssv1804048
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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