A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231134



Internal ID22372144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:39070711..39070976hg38UCSC Ensembl
chrX:38929964..38930229hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430014
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving MER satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231134
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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