A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14293346



Internal ID22231823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:97666025..97666289hg38UCSC Ensembl
chr2:98282488..98282752hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208443
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14293346
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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