A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269833



Internal ID22225341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154609037..154652813hg38UCSC Ensembl
OuterchrX:153837290..153881087hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3843777
hg1943798
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199520
Supporting Variants
SamplesHG00733
Known GenesCTAG1A, CTAG1B, CTAG2, FAM223A, FAM223B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269833
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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