A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2159339



Internal ID17727612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54238900..54244501hg38UCSC Ensembl
Innerchr19:54742776..54748342hg19UCSC Ensembl
Innerchr19:59434588..59440154hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg385602
hg195567
hg185567
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978848
Supporting Variants
SamplesHGDP00456
Known GenesLILRA6
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)nssv2159339
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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