A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14294521



Internal ID22184660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126883401..126888500hg38UCSC Ensembl
chr2:127640977..127646076hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196275
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14294521
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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