A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18235712



Internal ID20802752
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 StatusS
Merged Variantsnsv6602404
Supporting Variants
Samples
Known GenesAIMP2, CCZ1, EIF2AK1, OCM, PMS2, RNF216, RSPH10B, RSPH10B2, ZNF815P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18235712
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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