A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212521



Internal ID22359742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:309228..367186hg38UCSC Ensembl
OuterchrX:225895..327921hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg385221
hg195221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269470
SamplesNA19238
Known GenesGTPBP6, LINC00685, PPP2R3B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212521
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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