A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2136209



Internal ID17754400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14916448..14919140hg38UCSC Ensembl
Innerchr19:15027260..15029952hg19UCSC Ensembl
Innerchr19:14888260..14890952hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382693
hg192693
hg182693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978779
Supporting Variants
SamplesHGDP00521
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)nssv2136209
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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