A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14388563



Internal ID22303029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39045052..39045116hg38UCSC Ensembl
chr8:38902571..38902635hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220480
Supporting Variants
SamplesNA19240
Known GenesADAM9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14388563
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