A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917179



Internal ID22692398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116359950..116361185hg38UCSC Ensembl
chr10:118119462..118120697hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg381236
hg191236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369322
Samples
Known GenesCCDC172
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917179
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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