A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6617760



Internal ID20990831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4827522..5111466hg38UCSC Ensembl
chr7:4867153..5151097hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38283945
hg19283945
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18233689
Samples
Known GenesMMD2, PAPOLB, RADIL, RBAK, RBAKDN, RBAK-RBAKDN, RNF216P1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6617760
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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