A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3174741



Internal ID22332981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23580309..23580612hg38UCSC Ensembl
chr2:23803179..23803482hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14458758, nssv14432972
SamplesHG00733, HG00514
Known GenesKLHL29
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3174741
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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