A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268920



Internal ID22188267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:56075072..56120966hg38UCSC Ensembl
OuterchrX:56101505..56147399hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3845895
hg1945895
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199245
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268920
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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