A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146128



Internal ID345333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14023111..14073111hg38UCSC Ensembl
chr17:13926428..13976428hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3850001
hg1950001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711593
Samples
Known GenesCDRT15P1, COX10, COX10-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146128
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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