A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2401594



Internal ID17406977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29749917..29751911hg38UCSC Ensembl
Innerchr6:29717694..29719688hg19UCSC Ensembl
Innerchr6:29825673..29827667hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381995
hg191995
hg181995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969373
Supporting Variants
SamplesHGDP00521
Known GenesIFITM4P
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)nssv2401594
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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