A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18074484



Internal ID20641524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102203501..102205300hg38UCSC Ensembl
chr2:102819961..102821760hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348739
Supporting Variants
Samples
Known GenesIL1RL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18074484
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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