A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532755



Internal ID22402078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238231711..238231711hg38UCSC Ensembl
chr2:239140352..239140352hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297963, nssv14297962, nssv14297964, nssv14450238
SamplesHG00731, HG00732, HG00733
Known GenesLOC643387
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
CommentsSee descriptions for individual calls in download files
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3532755
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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