A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307824



Internal ID22188586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:84650383..84653692hg38UCSC Ensembl
chr3:84699534..84702843hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg383310
hg193310
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197648
Supporting Variants
SamplesHG00731
Known GenesLINC00971
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14307824
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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