A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114811



Internal ID21477362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74561067..74561067hg38UCSC Ensembl
chr2:74788194..74788194hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5616380
Supporting Variants
SamplesHG03486
Known GenesM1AP
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114811
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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