A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2319132



Internal ID17862574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56709621..56721499hg38UCSC Ensembl
Innerchr4:57575787..57587665hg19UCSC Ensembl
Innerchr4:57270544..57282422hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3811879
hg1911879
hg1811879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964048
Supporting Variants
SamplesHGDP01284
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)nssv2319132
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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