A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222699



Internal ID22366691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:15248810..15274008hg38UCSC Ensembl
OuterchrX:15266932..15292130hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38993
hg19993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269002, nssv14269005, nssv14269001, nssv14269004, nssv14269006, nssv14269000, nssv14268999, nssv14269003
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesASB9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222699
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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