A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18225654



Internal ID20792694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31515301..31522100hg38UCSC Ensembl
chr7:31554915..31561714hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg386800
hg196800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6606863
Supporting Variants
Samples
Known GenesCCDC129
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18225654
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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