A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14432575



Internal ID22175449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15611579..15611657hg38UCSC Ensembl
chr2:15751703..15751781hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3273446
Supporting Variants
SamplesHG00514
Known GenesDDX1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14432575
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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