A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230090



Internal ID22371730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:89574721..89645185hg38UCSC Ensembl
OuterchrX:88829720..88900184hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg384021
hg194021
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270453, nssv14270454
SamplesHG00512, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230090
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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