A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18229424



Internal ID20796464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50092201..50096200hg38UCSC Ensembl
chr7:50131797..50135796hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6602046
Supporting Variants
Samples
Known GenesC7orf72, ZPBP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18229424
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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