A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221928



Internal ID22366158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:148541346..148590031hg38UCSC Ensembl
OuterchrX:147622867..147671552hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38984
hg19984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269665, nssv14269666, nssv14269664, nssv14269661, nssv14269662, nssv14269663
SamplesHG00512, NA19238, HG00731, HG00732, HG00513, HG00514
Known GenesAFF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221928
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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