A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14312481



Internal ID22274595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230315348..230315456hg38UCSC Ensembl
chr1:230451094..230451202hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526322
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14312481
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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