A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6602404



Internal ID20975475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5715354..6025493hg38UCSC Ensembl
chr7:5754985..6065124hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38310140
hg19310140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18235712
Samples
Known GenesAIMP2, CCZ1, EIF2AK1, OCM, PMS2, RNF216, RSPH10B, RSPH10B2, ZNF815P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6602404
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