A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544275



Internal ID22413315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41730109..41730109hg38UCSC Ensembl
chr17:39886361..39886361hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14446795
SamplesHG00733
Known GenesHAP1
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)nsv3544275
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