A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269242



Internal ID22298986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:123816161..123857548hg38UCSC Ensembl
OuterchrX:122950011..122991398hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3841388
hg1941388
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197828
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269242
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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