A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285281



Internal ID22129659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8422728..8422979hg38UCSC Ensembl
chr19:8487612..8487863hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220316
Supporting Variants
SamplesHG00513
Known GenesMARCH2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285281
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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