A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6602481



Internal ID20975552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:122701406..122709875hg38UCSC Ensembl
chr7:122341460..122349929hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg388470
hg198470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18149395
Samples
Known GenesCADPS2, RNF148
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6602481
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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