A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2498385



Internal ID17804150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25427953..25430126hg38UCSC Ensembl
Innerchr8:25285469..25287642hg19UCSC Ensembl
Innerchr8:25341386..25343559hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg382174
hg192174
hg182174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981920
Supporting Variants
SamplesHGDP00778
Known GenesKCTD9
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)nssv2498385
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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