A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2143444



Internal ID17437772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:32979316..33026663hg38UCSC Ensembl
Innerchr19:33470222..33517569hg19UCSC Ensembl
Innerchr19:38162062..38209409hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3847348
hg1947348
hg1847348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv978803
Supporting Variants
SamplesHGDP00665
Known GenesRHPN2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2143444
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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