A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210542



Internal ID22358408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:76193171..76219000hg38UCSC Ensembl
OuterchrX:75413009..75439399hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38684
hg19684
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270595
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210542
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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