A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413014



Internal ID22148268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:76034021..76034325hg38UCSC Ensembl
chrX:75253856..75254160hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200720
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14413014
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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