A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523835



Internal ID22393263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:136316417..136316417hg38UCSC Ensembl
chrX:135398576..135398576hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461982
SamplesHG00733
Known GenesGPR112
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3523835
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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