A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290167



Internal ID22159062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8860224..8860295hg38UCSC Ensembl
chr2:9000354..9000425hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525244
Supporting Variants
SamplesHG00514
Known GenesMBOAT2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290167
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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