A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377146



Internal ID22318769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149485080..149485080hg38UCSC Ensembl
chr1:146417088..146417088hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384850
hg194850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3531203
Supporting Variants
SamplesNA19240
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14377146
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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