A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403974



Internal ID22300477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:64254020..64254020hg38UCSC Ensembl
chrX:63473900..63473900hg19UCSC Ensembl
CytobandXq11.2
Allele length
AssemblyAllele length
hg386491
hg196491
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539089
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14403974
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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