A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296470



Internal ID22185248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181757560..181758150hg38UCSC Ensembl
chr2:182622287..182622877hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201085
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296470
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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