A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525259



Internal ID22394635
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297201, nssv14297202, nssv14297200
SamplesNA19239, NA19240, HG00513
Known GenesAGAP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525259
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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