A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146108



Internal ID345313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7351000..7359111hg38UCSC Ensembl
chr17:7254319..7262430hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg388112
hg198112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711198
Samples
Known GenesACAP1, KCTD11, TMEM95
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146108
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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