A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207441



Internal ID22355830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:21738492..21808848hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3870357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271181, nssv14271182, nssv14271183
SamplesHG00512, NA19239, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207441
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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