A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983372



Internal ID56288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57046500..57092000hg38UCSC Ensembl
chr6:56911298..56956798hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3845501
hg1945501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466158
Supporting Variants
Samples
Known GenesKIAA1586, ZNF451
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983372
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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