A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389375



Internal ID22293907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46498861..46499236hg38UCSC Ensembl
chrX:46358296..46358671hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193546
Supporting Variants
SamplesNA19240
Known GenesZNF674
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14389375
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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