A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14451961



Internal ID22246933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184378697..184378697hg38UCSC Ensembl
chr4:185299851..185299851hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539839
Supporting Variants
SamplesHG00733
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)nssv14451961
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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