A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2131673



Internal ID17851940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11682559..11684816hg38UCSC Ensembl
Innerchr19:11793374..11795631hg19UCSC Ensembl
Innerchr19:11654374..11656631hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382258
hg192258
hg182258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960788
Supporting Variants
SamplesHGDP01029
Known GenesZNF833P
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)nssv2131673
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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