A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296294



Internal ID22223057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176451699..176451811hg38UCSC Ensembl
chr2:177316427..177316539hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198099
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296294
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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