A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206485



Internal ID20773525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112408201..112409700hg38UCSC Ensembl
chr2:113165778..113167277hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349352
Supporting Variants
Samples
Known GenesRGPD5, RGPD8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206485
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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