A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2137664



Internal ID17388286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20606114..20702177hg38UCSC Ensembl
Innerchr19:20788920..20884983hg19UCSC Ensembl
Innerchr19:20580760..20676823hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3896064
hg1996064
hg1896064
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978786
Supporting Variants
SamplesHGDP00456
Known GenesZNF626
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)nssv2137664
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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