A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187077



Internal ID22339543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173333856..173334177hg38UCSC Ensembl
chr2:174198584..174198905hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4901n152
Supporting Variantsnssv14408361, nssv14433435, nssv14460698
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3187077
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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