A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3534783



Internal ID22404055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47584242..47584242hg38UCSC Ensembl
chrX:47443641..47443641hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14403194
SamplesNA19240
Known GenesSYN1, TIMP1
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)nsv3534783
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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