A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2315289



Internal ID17470888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:25713016..25721336hg38UCSC Ensembl
Innerchr4:25714638..25722958hg19UCSC Ensembl
Innerchr4:25323736..25332056hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg388321
hg198321
hg188321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980188
Supporting Variants
SamplesHGDP00927
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)nssv2315289
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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