A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271214



Internal ID22282654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:20999089..21053760hg38UCSC Ensembl
OuterchrY:23160975..23215646hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg381465
hg191465
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223699
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271214
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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