A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14429880



Internal ID22171787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103525109..103525109hg38UCSC Ensembl
chrX:102780037..102780037hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg381748
hg191748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3531378
Supporting Variants
SamplesHG00514
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)nssv14429880
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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