A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561393



Internal ID22430161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7843329..7843329hg38UCSC Ensembl
chr19:7908215..7908215hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14285255, nssv14285256, nssv14285254
SamplesNA19240, HG00733, HG00514
Known GenesEVI5L
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561393
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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