A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226203



Internal ID22369088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:40937937..40950365hg38UCSC Ensembl
OuterchrX:40797190..40809618hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38943
hg19943
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269067, nssv14269063, nssv14269066, nssv14269062, nssv14269065, nssv14269064, nssv14269061, nssv14269068
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226203
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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