A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222346



Internal ID22366451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:108771648..108802496hg38UCSC Ensembl
OuterchrX:108014878..108045726hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3810196
hg1910196
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269582, nssv14269578, nssv14269580, nssv14269576, nssv14269579, nssv14269577, nssv14269581, nssv14269575
SamplesHG00512, NA19238, NA19239, 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)nsv3222346
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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