A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14452723



Internal ID22247586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160071929..160072013hg38UCSC Ensembl
chr3:159789716..159789800hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195727
Supporting Variants
SamplesHG00733
Known GenesIL12A-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14452723
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