A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18219767



Internal ID20786807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117812019..118132430hg38UCSC Ensembl
chr7:117452073..117772484hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38320412
hg19320412
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6603200
Supporting Variants
Samples
Known GenesCTTNBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18219767
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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