A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18050925



Internal ID20617965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111753044..111754444hg38UCSC Ensembl
chr1:112295666..112297066hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6315782
Supporting Variants
Samples
Known GenesFAM212B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18050925
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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