A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1798917



Internal ID17450961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150594870..150606611hg38UCSC Ensembl
Innerchr1:150567346..150579087hg19UCSC Ensembl
Innerchr1:148833970..148845711hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3811742
hg1911742
hg1811742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946384
Supporting Variants
SamplesHGDP00778
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)nssv1798917
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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