A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530972



Internal ID22400339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:6160961..6160961hg38UCSC Ensembl
chrX:6079002..6079002hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429037
SamplesHG00514
Known GenesNLGN4X
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)nsv3530972
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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