A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543225



Internal ID22412287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:61409360..61409360hg38UCSC Ensembl
chr9:39738916..39738916hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404138, nssv14460578, nssv14427744
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3543225
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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