A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110962



Internal ID21424678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191398166..191398166hg38UCSC Ensembl
chr2:192262892..192262892hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5619301
Supporting Variants
SamplesHG00731
Known GenesMYO1B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110962
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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