A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17413412



Internal ID22471282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56556890..56556955hg38UCSC Ensembl
chr5:55852717..55852782hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5891030
Supporting Variants
Samples
Known GenesLOC101928448
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17413412
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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