A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1766344



Internal ID17745866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:26519220..26522929hg38UCSC Ensembl
Innerchr1:26845711..26849420hg19UCSC Ensembl
Innerchr1:26718298..26722007hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg383710
hg193710
hg183710
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945843
Supporting Variants
SamplesHGDP00521
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)nssv1766344
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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