A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531976



Internal ID22401316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160268627..160268627hg38UCSC Ensembl
chr2:161125138..161125138hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394860
SamplesNA19240
Known GenesLOC100505984
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3531976
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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