A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18086077



Internal ID20653117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49064599..49066322hg38UCSC Ensembl
chr2:49291738..49293461hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg381724
hg191724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337341
Supporting Variants
Samples
Known GenesFSHR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18086077
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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