A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17103027



Internal ID21481355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1049592..1049592hg38UCSC Ensembl
chr19:1049591..1049591hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384613
hg194613
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5647810
Supporting Variants
SamplesHG03683
Known GenesABCA7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17103027
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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