A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269227



Internal ID22224681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1634164..1770175hg38UCSC Ensembl
OuterchrX:1753057..1889068hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38136012
hg19136012
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197331
Supporting Variants
SamplesHG00733
Known GenesASMT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269227
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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