A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217657



Internal ID20784697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2228509..2313419hg38UCSC Ensembl
chr7:2268144..2353054hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3884911
hg1984911
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6611762
Supporting Variants
Samples
Known GenesFTSJ2, MAD1L1, MIR6836, NUDT1, SNX8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217657
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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