A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443012



Internal ID22500882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12565333..12602009hg38UCSC Ensembl
chr7:12604959..12641634hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3836677
hg1936676
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5910110
Supporting Variants
Samples
Known GenesSCIN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443012
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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