A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3534798



Internal ID22404070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155700996..155700996hg38UCSC Ensembl
chr1:155670787..155670787hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380690
SamplesNA19240
Known GenesDAP3
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)nsv3534798
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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