A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292534



Internal ID22184292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42044175..42044175hg38UCSC Ensembl
chr2:42271315..42271315hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562676
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292534
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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