A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3172652



Internal ID22331918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42021919..42022103hg38UCSC Ensembl
chr4:42023936..42024120hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435429
SamplesHG00514
Known GenesSLC30A9
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)nsv3172652
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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