A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2147559



Internal ID17751068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:37696274..37697970hg38UCSC Ensembl
Innerchr19:38187175..38188871hg19UCSC Ensembl
Innerchr19:42879015..42880711hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg381697
hg191697
hg181697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978813
Supporting Variants
SamplesHGDP00521
Known GenesZNF607
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)nssv2147559
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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