A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2508593



Internal ID17870833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72983775..72987751hg38UCSC Ensembl
Innerchr8:73896010..73899986hg19UCSC Ensembl
Innerchr8:74058564..74062540hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg383977
hg193977
hg183977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971663
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)nssv2508593
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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