A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199520



Internal ID22349091
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269833, nssv14269832, nssv14269831
SamplesHG00512, HG00732, HG00733
Known GenesCTAG1A, CTAG1B, CTAG2, FAM223A, FAM223B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199520
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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