A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187108



Internal ID20754148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2334094..2648283hg38UCSC Ensembl
chr16:2384095..2698284hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38314190
hg19314190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6498790
Supporting Variants
Samples
Known GenesABCA17P, ABCA3, AMDHD2, ATP6V0C, C16orf59, CCNF, CEMP1, FLJ42627, LOC652276, MIR3178, MIR6767, MIR6768, NTN3, PDPK1, TBC1D24
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187108
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer