A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531203



Internal ID22400566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149485080..149485080hg38UCSC Ensembl
chr1:146417088..146417088hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg389189
hg199189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413243, nssv14377146, nssv14441295
SamplesNA19240, HG00733, HG00514
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)nsv3531203
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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