A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2131349



Internal ID17818064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9650166..9699316hg38UCSC Ensembl
Innerchr19:9760842..9809992hg19UCSC Ensembl
Innerchr19:9621842..9670992hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3849151
hg1949151
hg1849151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963003
Supporting Variants
SamplesHGDP00927
Known GenesZNF562, ZNF812
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)nssv2131349
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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