A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428187



Internal ID22169349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130591403..130591403hg38UCSC Ensembl
chr7:130275673..130275673hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38628
hg19628
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541746
Supporting Variants
SamplesHG00514
Known GenesCOPG2
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)nssv14428187
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