A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217177



Internal ID22362920
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269761
SamplesNA19239
Known GenesDMD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217177
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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