A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2152300



Internal ID17471442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43991288..43991896hg38UCSC Ensembl
Innerchr19:44495440..44496048hg19UCSC Ensembl
Innerchr19:49187280..49187888hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38609
hg19609
hg18609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960850
Supporting Variants
SamplesHGDP00927
Known GenesZNF155
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)nssv2152300
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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