A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269781



Internal ID22286502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:73923083..73963920hg38UCSC Ensembl
OuterchrX:73142918..73183755hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3840838
hg1940838
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208150
Supporting Variants
SamplesNA19240
Known GenesJPX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269781
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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