A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18221473



Internal ID20788513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:127327601..127486000hg38UCSC Ensembl
chr7:126967655..127126054hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38158400
hg19158400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6426950
Supporting Variants
Samples
Known GenesZNF800
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18221473
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00059


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