A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2515212



Internal ID17739177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:101871400..101872603hg38UCSC Ensembl
Innerchr8:102883628..102884831hg19UCSC Ensembl
Innerchr8:102952804..102954007hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381204
hg191204
hg181204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981971
Supporting Variants
SamplesHGDP00456
Known GenesNCALD
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)nssv2515212
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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