A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403204



Internal ID22310172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49689600..49689600hg38UCSC Ensembl
chrX:49454203..49454203hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3536404
Supporting Variants
SamplesNA19240
Known GenesPAGE1
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)nssv14403204
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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