A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2160955



Internal ID17851040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:58585543..58603472hg38UCSC Ensembl
Innerchr19:59096910..59114839hg19UCSC Ensembl
Innerchr19:63788722..63806943hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3817930
hg1917930
hg1818222
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963086
Supporting Variants
SamplesHGDP01029
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)nssv2160955
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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