A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269806



Internal ID22122242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:81955113..81990647hg38UCSC Ensembl
OuterchrX:81210562..81246096hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3835535
hg1935535
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209380
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269806
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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