A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1798531



Internal ID17450949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154963421..154964023hg38UCSC Ensembl
Innerchr1:154935897..154936499hg19UCSC Ensembl
Innerchr1:153202521..153203123hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38603
hg19603
hg18603
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946408
Supporting Variants
SamplesHGDP00778
Known GenesSHC1
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)nssv1798531
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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