A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539944



Internal ID22409095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138572247..138572247hg38UCSC Ensembl
chr5:137907936..137907936hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399880, nssv14399881
SamplesNA19240
Known GenesHSPA9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSee descriptions for individual calls in download files
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3539944
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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