A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547999



Internal ID22416960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77885558..77885558hg38UCSC Ensembl
chr17:75881640..75881640hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419660, nssv14446639, nssv14383035
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)nsv3547999
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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