A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217682



Internal ID22363259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:30635601..30645439hg38UCSC Ensembl
OuterchrX:30653718..30663556hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg381895
hg191895
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269030, nssv14269024, nssv14269026, nssv14269028, nssv14269025, nssv14269027, nssv14269023, nssv14269029, nssv14269022
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217682
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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