A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268885



Internal ID22292092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49963105..49977163hg38UCSC Ensembl
OuterchrX:49727715..49741774hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3814059
hg1914060
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195384
Supporting Variants
SamplesNA19240
Known GenesCLCN5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268885
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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