A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269247



Internal ID22309382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:130527190..130536387hg38UCSC Ensembl
OuterchrX:129661164..129670361hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg389198
hg199198
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194110
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269247
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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