A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1819992



Internal ID17867920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223856052..223858519hg38UCSC Ensembl
Innerchr1:224043754..224046221hg19UCSC Ensembl
Innerchr1:222110377..222112844hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382468
hg192468
hg182468
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945311
Supporting Variants
SamplesHGDP01284
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)nssv1819992
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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