A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296558



Internal ID22161674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159314002..159361079hg38UCSC Ensembl
chr2:160170513..160217590hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3847078
hg1947078
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209975
Supporting Variants
SamplesHG00514
Known GenesBAZ2B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296558
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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