A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391344



Internal ID22291315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:54065193..54065701hg38UCSC Ensembl
chrX:54091626..54092134hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38509
hg19509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210156
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14391344
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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