A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388299



Internal ID22446169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45080534..45080627hg38UCSC Ensembl
chr17:43157902..43157995hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5935169
Supporting Variants
Samples
Known GenesNMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388299
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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