A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216857



Internal ID22362709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:41488213..41510672hg38UCSC Ensembl
OuterchrX:41347466..41369925hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg381152
hg191152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270773, nssv14270772
SamplesNA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216857
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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