A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2133409



Internal ID17888330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12352071..12353358hg38UCSC Ensembl
Innerchr19:12462885..12464172hg19UCSC Ensembl
Innerchr19:12323885..12325172hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381288
hg191288
hg181288
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961181
Supporting Variants
SamplesHGDP01307
Known GenesZNF442
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)nssv2133409
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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