A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380690



Internal ID22285839
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 StatusS
Merged Variantsnsv3534798
Supporting Variants
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)nssv14380690
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer