A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269286



Internal ID22317736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:32614353..32645623hg38UCSC Ensembl
OuterchrX:32632470..32663740hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3831271
hg1931271
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204695
Supporting Variants
SamplesNA19240
Known GenesDMD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269286
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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