A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2317954



Internal ID17782146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:41841327..41843966hg38UCSC Ensembl
Innerchr4:41843344..41845983hg19UCSC Ensembl
Innerchr4:41538101..41540740hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg382640
hg192640
hg182640
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980197
Supporting Variants
SamplesHGDP00665
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)nssv2317954
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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