A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213334



Internal ID22360313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103520784..103533609hg38UCSC Ensembl
OuterchrX:102775712..102788537hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg381822
hg191822
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270546, nssv14270547
SamplesHG00512, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213334
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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