A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227543



Internal ID20794583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:86784801..86789000hg38UCSC Ensembl
chr7:86414117..86418316hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg384200
hg194200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6601904
Supporting Variants
Samples
Known GenesGRM3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227543
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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