A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269795



Internal ID22122228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:52261127..52277540hg38UCSC Ensembl
OuterchrX:52004254..52020661hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3816414
hg1916408
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196665
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269795
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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