A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210678



Internal ID22358502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:81653861..81686359hg38UCSC Ensembl
OuterchrX:80909360..80941858hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381623
hg191623
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270436, nssv14269779, nssv14270434, nssv14270433, nssv14270437, nssv14270432, nssv14270431, nssv14270435
SamplesHG00512, 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)nsv3210678
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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