A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17422081



Internal ID22479951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42757000..42757159hg38UCSC Ensembl
chr5:42757102..42757261hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895823
Supporting Variants
Samples
Known GenesCCDC152
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17422081
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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