A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112160



Internal ID21405481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241091412..241091412hg38UCSC Ensembl
chr2:242030827..242030827hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5624117
Supporting Variants
SamplesHG00512
Known GenesMTERFD2, SNED1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112160
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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