A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2135133



Internal ID17537194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14840570..14846800hg38UCSC Ensembl
Innerchr19:14951382..14957612hg19UCSC Ensembl
Innerchr19:14812382..14818612hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg386231
hg196231
hg186231
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978778
Supporting Variants
SamplesHGDP01307
Known GenesOR7A10
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)nssv2135133
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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