A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199306



Internal ID22348909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45580903..45581525hg38UCSC Ensembl
chr1:46046575..46047197hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38623
hg19623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362789, nssv14362788, nssv14362787
SamplesNA19239, NA19240, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199306
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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