A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292216



Internal ID22274306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31820831..31823538hg38UCSC Ensembl
chr2:32045900..32048607hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg382708
hg192708
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250044
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292216
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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