A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285240



Internal ID22271507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7644090..7644295hg38UCSC Ensembl
chr19:7708976..7709181hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212601
Supporting Variants
SamplesNA19239
Known GenesSTXBP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285240
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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