A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269807



Internal ID22122244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:83303500..83396627hg38UCSC Ensembl
OuterchrX:82558508..82651635hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3893128
hg1993128
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197953
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269807
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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