A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054251



Internal ID20621292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186130901..186132000hg38UCSC Ensembl
chr1:186100033..186101132hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326075
Supporting Variants
Samples
Known GenesHMCN1, MIR548F1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054251
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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