A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112678



Internal ID21444230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241015720..241015720hg38UCSC Ensembl
chr2:241955137..241955137hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5615846
Supporting Variants
SamplesHG00732
Known GenesSNED1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112678
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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