A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2474430



Internal ID17780635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:103140761..103142250hg38UCSC Ensembl
Innerchr7:102781208..102782697hg19UCSC Ensembl
Innerchr7:102568444..102569933hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381490
hg191490
hg181490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970565
Supporting Variants
SamplesHGDP00665
Known GenesNAPEPLD, RPL19P12
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)nssv2474430
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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