A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707272



Internal ID130938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28647000..29056486hg38UCSC Ensembl
chr16:28658321..29067807hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38409487
hg19409487
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145605
Supporting Variants
Samples
Known GenesATP2A1, ATXN2L, CD19, EIF3C, EIF3CL, LAT, LOC100289092, MIR4517, MIR4721, MIR6862-1, MIR6862-2, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707272
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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