A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208326



Internal ID22356587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:155544015..155585219hg38UCSC Ensembl
OuterchrX:154773676..154814880hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3841205
hg1941205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270101, nssv14270100, nssv14270099, nssv14270096, nssv14270095, nssv14270097, nssv14270102, nssv14270098
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesTMLHE
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208326
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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