A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443333



Internal ID22501203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:55813547..55813640hg38UCSC Ensembl
chr7:55881240..55881333hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5913807
Supporting Variants
Samples
Known GenesSEPT14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443333
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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