A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18223068



Internal ID20790108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49666871..50061823hg38UCSC Ensembl
chr7:49706467..50101419hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg38394953
hg19394953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6616055
Supporting Variants
Samples
Known GenesVWC2, ZPBP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18223068
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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