A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3537996



Internal ID22407187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111721538..111721538hg38UCSC Ensembl
chrX:110964766..110964766hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429192
SamplesHG00514
Known GenesALG13
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3537996
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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