A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17424465



Internal ID22482335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93721152..93728358hg38UCSC Ensembl
chr5:93056858..93064064hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg387207
hg197207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896040
Supporting Variants
Samples
Known GenesFAM172A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17424465
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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