A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269462



Internal ID22200132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:139166249..139195080hg38UCSC Ensembl
OuterchrX:138248411..138277242hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3828832
hg1928832
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194700
Supporting Variants
SamplesHG00732
Known GenesFGF13
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269462
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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