A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114920



Internal ID21456154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86571567..86571567hg38UCSC Ensembl
chr2:86798690..86798690hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5613236
Supporting Variants
SamplesHG02492
Known GenesRNF103-CHMP3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114920
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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