A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211704



Internal ID22359179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:78254128..78271155hg38UCSC Ensembl
OuterchrX:77509625..77526652hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg382210
hg192210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269915, nssv14269911, nssv14269912, nssv14269910, nssv14269914, nssv14269913, nssv14269909, nssv14269908, nssv14269907
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)nsv3211704
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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