A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2329089



Internal ID17756000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:105483240..105486132hg38UCSC Ensembl
Innerchr4:106404397..106407289hg19UCSC Ensembl
Innerchr4:106623846..106626738hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg382893
hg192893
hg182893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964078
Supporting Variants
SamplesHGDP00521
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)nssv2329089
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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