A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269857



Internal ID22146732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:41414582..41448570hg38UCSC Ensembl
OuterchrX:41273835..41307823hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3833989
hg1933989
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207468
Supporting Variants
SamplesHG00514
Known GenesNYX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269857
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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