A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060149



Internal ID20627189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240951501..240955100hg38UCSC Ensembl
chr1:241114801..241118400hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322379
Supporting Variants
Samples
Known GenesRGS7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060149
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00203


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