A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269861



Internal ID22146735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153794974..153798412hg38UCSC Ensembl
OuterchrX:153060429..153063867hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383439
hg193439
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198139
Supporting Variants
SamplesHG00514
Known GenesSSR4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269861
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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