A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17447069



Internal ID22504939
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 StatusS
Merged Variantsnsv5958600
Supporting Variants
Samples
Known GenesDOCK4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17447069
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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