A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18230173



Internal ID20797213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39554001..39640200hg38UCSC Ensembl
chr7:39593600..39679799hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3886200
hg1986200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6605707
Supporting Variants
Samples
Known GenesRALA, YAE1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18230173
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0011


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