A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2320706



Internal ID17754744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:64611292..64611792hg38UCSC Ensembl
Innerchr4:65477010..65477510hg19UCSC Ensembl
Innerchr4:65159605..65160105hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966275
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)nssv2320706
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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