A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173699



Internal ID22332444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121526892..121527075hg38UCSC Ensembl
chr4:122448047..122448230hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435133, nssv14411646
SamplesNA19240, 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)nsv3173699
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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