A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270076



Internal ID22260044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:149311932..149436140hg38UCSC Ensembl
OuterchrX:148393462..148517671hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38124209
hg19124210
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210048
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270076
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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