A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217229



Internal ID20784269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140321857..140376743hg38UCSC Ensembl
chr7:140021657..140076543hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3854887
hg1954887
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6420883
Supporting Variants
Samples
Known GenesSLC37A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217229
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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