A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2298482



Internal ID17491983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:149999780..150002606hg38UCSC Ensembl
Innerchr3:149717567..149720393hg19UCSC Ensembl
Innerchr3:151200257..151203083hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg382827
hg192827
hg182827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979889
Supporting Variants
SamplesHGDP00998
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)nssv2298482
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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