A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232335



Internal ID22372475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:142351559..142351625hg38UCSC Ensembl
chrX:141439345..141439411hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383820
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232335
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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