A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2515073



Internal ID17392447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:100923589..100924905hg38UCSC Ensembl
Innerchr8:101935817..101937133hg19UCSC Ensembl
Innerchr8:102004993..102006309hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381317
hg191317
hg181317
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971342
Supporting Variants
SamplesHGDP00456
Known GenesYWHAZ
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)nssv2515073
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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