A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6601633



Internal ID20974704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5886601..6187100hg38UCSC Ensembl
chr7:5926232..6226731hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38300500
hg19300500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18230899
Samples
Known GenesAIMP2, ANKRD61, CCZ1, CYTH3, EIF2AK1, PMS2, RSPH10B, RSPH10B2, USP42
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6601633
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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