A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6502798



Internal ID20876046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2631329..2974893hg38UCSC Ensembl
chr17:2534623..2878187hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38343565
hg19343565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193726
Samples
Known GenesCLUH, MIR1253, MIR6776, PAFAH1B1, RAP1GAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6502798
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