A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214167



Internal ID22360899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:42459894..42478060hg38UCSC Ensembl
OuterchrX:42319146..42337312hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38758
hg19758
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270512, nssv14270511, nssv14270510
SamplesHG00512, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214167
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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