A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6618598



Internal ID20991669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105147698..105627595hg38UCSC Ensembl
chr7:104788145..105268042hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38479898
hg19479898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18217775
Samples
Known GenesATXN7L1, EFCAB10, PUS7, RINT1, SRPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6618598
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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