A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18062187



Internal ID20629227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54834901..54840000hg38UCSC Ensembl
chr1:55300574..55305673hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6320877
Supporting Variants
Samples
Known GenesC1orf177
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18062187
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00288


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