A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270099



Internal ID22188827
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208326
Supporting Variants
SamplesHG00731
Known GenesTMLHE
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270099
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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