A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2152485



Internal ID17884882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44026387..44027158hg38UCSC Ensembl
Innerchr19:44530539..44531310hg19UCSC Ensembl
Innerchr19:49222379..49223150hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38772
hg19772
hg18772
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961226
Supporting Variants
SamplesHGDP01307
Known GenesZNF222
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)nssv2152485
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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