A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111796



Internal ID21412525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231249801..231249948hg38UCSC Ensembl
chr2:232114514..232114661hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5582727
Supporting Variants
SamplesHG00513
Known GenesARMC9
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111796
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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