A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17144278



Internal ID21506782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6056613..6056613hg38UCSC Ensembl
chr7:6096244..6096244hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5640084
Supporting Variants
SamplesNA19983
Known GenesEIF2AK1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17144278
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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