A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961687



Internal ID22736630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31761094..31761094hg38UCSC Ensembl
chr7:31800708..31800708hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17440029
Samples
Known GenesPDE1C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961687
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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