A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2134330



Internal ID17728656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12507737..12509774hg38UCSC Ensembl
Innerchr19:12618551..12620588hg19UCSC Ensembl
Innerchr19:12479551..12481588hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382038
hg192038
hg182038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978774
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv2134330
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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