A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268409



Internal ID22203340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119728127..119775867hg38UCSC Ensembl
OuterchrX:118862090..118909830hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3847741
hg1947741
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199061
Supporting Variants
SamplesHG00732
Known GenesSOWAHD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268409
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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