A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18078191



Internal ID20645231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144970901..144974000hg38UCSC Ensembl
chr2:145728468..145731567hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351643
Supporting Variants
Samples
Known GenesTEX41
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18078191
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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