A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297158



Internal ID22279522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234170632..234170767hg38UCSC Ensembl
chr2:235079276..235079411hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192431
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297158
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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