A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2328486



Internal ID17754770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:94192118..94198001hg38UCSC Ensembl
Innerchr4:95113269..95119152hg19UCSC Ensembl
Innerchr4:95332292..95338175hg18UCSC Ensembl
Cytoband4q22.2
Allele length
AssemblyAllele length
hg385884
hg195884
hg185884
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964073
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)nssv2328486
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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