A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228313



Internal ID22370541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:15022176..15032801hg38UCSC Ensembl
OuterchrX:15040298..15050923hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381007
hg191007
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269753, nssv14269755, nssv14269754
SamplesNA19239, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228313
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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