A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3534017



Internal ID22403311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243998721..243998721hg38UCSC Ensembl
chr1:244162023..244162023hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380388, nssv14440165, nssv14414515
SamplesNA19240, HG00733, HG00514
Known GenesLOC339529
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)nsv3534017
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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