A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542480



Internal ID22411557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182068991..182068991hg38UCSC Ensembl
chr1:182038126..182038126hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440733, nssv14412916, nssv14386693
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3542480
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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