A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211474



Internal ID22359022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1628399..1770175hg38UCSC Ensembl
OuterchrX:1747292..1889068hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3818696
hg1918696
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269742
SamplesNA19239
Known GenesASMT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211474
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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