A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2126749



Internal ID17438056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4720236..4724775hg38UCSC Ensembl
Innerchr19:4720248..4724787hg19UCSC Ensembl
Innerchr19:4671248..4675787hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384540
hg194540
hg184540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978760
Supporting Variants
SamplesHGDP00665
Known GenesDPP9
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)nssv2126749
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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