A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114220



Internal ID21505728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42245094..42245094hg38UCSC Ensembl
chr2:42472234..42472234hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5613915
Supporting Variants
SamplesNA19650
Known GenesEML4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114220
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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