A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18078774



Internal ID20645814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147954701..147955900hg38UCSC Ensembl
chr2:148712270..148713469hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351042
Supporting Variants
Samples
Known GenesORC4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18078774
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00034


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