A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187355



Internal ID22339682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181491245..181491560hg38UCSC Ensembl
chr2:182355972..182356287hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4915n152
Supporting Variantsnssv14463663, nssv14407538, nssv14433455
SamplesNA19240, HG00733, HG00514
Known GenesITGA4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3187355
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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