A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2155821



Internal ID17766867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52140366..52143285hg38UCSC Ensembl
Innerchr19:52643619..52646538hg19UCSC Ensembl
Innerchr19:57335431..57338350hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382920
hg192920
hg182920
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960860
Supporting Variants
SamplesHGDP00542
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)nssv2155821
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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