A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17507983



Internal ID22565932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7409588..7410907hg38UCSC Ensembl
chr6:7409821..7411140hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg381320
hg191320
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5845700
Supporting Variants
Samples
Known GenesRIOK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17507983
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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