A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14431203



Internal ID22173659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3307179..3307354hg38UCSC Ensembl
chr16:3357179..3357354hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3185470
Supporting Variants
SamplesHG00514
Known GenesZNF75A
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)nssv14431203
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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