A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17103028



Internal ID21428188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1049643..1049643hg38UCSC Ensembl
chr19:1049642..1049642hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5645697
Supporting Variants
SamplesHG00731
Known GenesABCA7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17103028
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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