A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461444



Internal ID22214029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200683439..200683565hg38UCSC Ensembl
chr2:201548162..201548288hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3274658
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14461444
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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