A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206122



Internal ID20773162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226832801..226839200hg38UCSC Ensembl
chr2:227697517..227703916hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg386400
hg196400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6344989
Supporting Variants
Samples
Known GenesRHBDD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206122
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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