A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14291445



Internal ID22321273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6814671..6814671hg38UCSC Ensembl
chr19:6814682..6814682hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561237
Supporting Variants
SamplesNA19240
Known GenesVAV1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14291445
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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