A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216296



Internal ID22362333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:52461153..52512179hg38UCSC Ensembl
OuterchrX:52204296..52541155hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3812937
hg1912937
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269767, nssv14269766, nssv14269765
SamplesHG00512, NA19239, NA19240
Known GenesXAGE1A, XAGE1B, XAGE1C, XAGE1D, XAGE1E, XAGE2, XAGE2B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216296
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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