A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201789



Internal ID20768829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186374401..186376100hg38UCSC Ensembl
chr1:186343533..186345232hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326448
Supporting Variants
Samples
Known GenesC1orf27, MIR548F1, TPR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201789
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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