A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14295520



Internal ID22319882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170349688..170350156hg38UCSC Ensembl
chr2:171206198..171206666hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203374
Supporting Variants
SamplesNA19240
Known GenesMYO3B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14295520
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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