A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269761



Internal ID22282198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:32697757..32720362hg38UCSC Ensembl
OuterchrX:32715874..32738479hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38846
hg19846
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217177
Supporting Variants
SamplesNA19239
Known GenesDMD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269761
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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