A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14434967



Internal ID22178005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:154378945..154379265hg38UCSC Ensembl
chr3:154096734..154097054hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3182703
Supporting Variants
SamplesHG00514
Known GenesGPR149
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)nssv14434967
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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