A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2147922



Internal ID17730686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:37259065..37329615hg38UCSC Ensembl
Innerchr19:37749967..37820517hg19UCSC Ensembl
Innerchr19:42441807..42512357hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3870551
hg1970551
hg1870551
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978811
Supporting Variants
SamplesHGDP00456
Known GenesLOC284412
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)nssv2147922
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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