A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2138617



Internal ID17469552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:21728506..21767698hg38UCSC Ensembl
Innerchr19:21911308..21950500hg19UCSC Ensembl
Innerchr19:21703148..21742340hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3839193
hg1939193
hg1839193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961193
Supporting Variants
SamplesHGDP00927
Known GenesLOC641367, ZNF100
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)nssv2138617
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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