A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220439



Internal ID22365132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:152176630..152184384hg38UCSC Ensembl
OuterchrX:151345102..151352856hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38668
hg19668
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269674, nssv14269673, nssv14269677, nssv14269676, nssv14269675
SamplesHG00512, NA19238, HG00731, HG00513, HG00514
Known GenesGABRA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220439
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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