A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191509



Internal ID22342205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83018644..83018855hg38UCSC Ensembl
chr1:83484327..83484538hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14375504
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191509
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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