A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17104112



Internal ID21499054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2126150..2126150hg38UCSC Ensembl
chr19:2126149..2126149hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5662136
Supporting Variants
SamplesNA19239
Known GenesAP3D1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17104112
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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