A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225751



Internal ID22368787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:135155239..135217300hg38UCSC Ensembl
OuterchrX:134289164..134351231hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270466, nssv14270465
SamplesNA19239, HG00731
Known GenesCXorf48
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225751
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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