A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378207



Internal ID22313014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:68325478..68325590hg38UCSC Ensembl
chr7:67790465..67790577hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209890
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378207
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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