A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269244



Internal ID22327493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:126703501..126730962hg38UCSC Ensembl
OuterchrX:125837484..125864945hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3827462
hg1927462
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207494
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269244
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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