A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6508967



Internal ID20882272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13366043..14097650hg38UCSC Ensembl
chr17:13269360..14000967hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38731608
hg19731608
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178055
Samples
Known GenesCDRT15P1, COX10, COX10-AS1, HS3ST3A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6508967
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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