A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17420031



Internal ID22477901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:119289433..119289532hg38UCSC Ensembl
chr6:119610598..119610697hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5899709
Supporting Variants
Samples
Known GenesMAN1A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17420031
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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