A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268863



Internal ID22146598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:44659135..44671231hg38UCSC Ensembl
OuterchrX:44518381..44530477hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3812097
hg1912097
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196012
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268863
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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