A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946711



Internal ID22722206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89610799..89855128hg38UCSC Ensembl
chr16:89677207..89921536hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38244330
hg19244330
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384628
Samples
Known GenesCDK10, CHMP1A, DPEP1, FANCA, SPATA2L, SPATA33, SPIRE2, VPS9D1, VPS9D1-AS1, ZNF276
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946711
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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