A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2130263



Internal ID17849064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7876264..7879899hg38UCSC Ensembl
Innerchr19:7941149..7944784hg19UCSC Ensembl
Innerchr19:7847149..7850784hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg383636
hg193636
hg183636
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960782
Supporting Variants
SamplesHGDP01029
Known GenesLOC388499
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)nssv2130263
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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