A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958600



Internal ID22733662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:111762762..111762762hg38UCSC Ensembl
chr7:111402818..111402818hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17447069
Samples
Known GenesDOCK4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5958600
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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