A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297200



Internal ID22129799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235525649..235526129hg38UCSC Ensembl
chr2:236434293..236434773hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38481
hg19481
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525259
Supporting Variants
SamplesHG00513
Known GenesAGAP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297200
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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