A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054268



Internal ID20621309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186346773..186347227hg38UCSC Ensembl
chr1:186315905..186316359hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325300
Supporting Variants
Samples
Known GenesMIR548F1, TPR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054268
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00114


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