A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2132065



Internal ID17860610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11997796..12003872hg38UCSC Ensembl
Innerchr19:12108611..12114687hg19UCSC Ensembl
Innerchr19:11969611..11975687hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg386077
hg196077
hg186077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963004
Supporting Variants
SamplesHGDP01284
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)nssv2132065
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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