A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2314031



Internal ID17848086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:33826910..33860515hg38UCSC Ensembl
Innerchr4:33828532..33862137hg19UCSC Ensembl
Innerchr4:33504927..33538532hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3833606
hg1933606
hg1833606
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980190
Supporting Variants
SamplesHGDP01029
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)nssv2314031
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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