A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14388985



Internal ID22285681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73923083..73963920hg38UCSC Ensembl
chrX:73142918..73183755hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3840838
hg1940838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196044
Supporting Variants
SamplesNA19240
Known GenesJPX
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14388985
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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