A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307965



Internal ID22273512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127387819..127387870hg38UCSC Ensembl
chr3:127106662..127106713hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206798
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14307965
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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