A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1825837



Internal ID17735798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242254069..242365608hg38UCSC Ensembl
Innerchr1:242417371..242528910hg19UCSC Ensembl
Innerchr1:240483994..240595533hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38111540
hg19111540
hg18111540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv945409
Supporting Variants
SamplesHGDP00456
Known GenesPLD5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1825837
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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