A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6515291



Internal ID20888650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30441509..30448517hg38UCSC Ensembl
chr16:30452830..30459838hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387009
hg197009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18029157
Samples
Known GenesSEPHS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6515291
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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