A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17103149



Internal ID21455965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14176053..14176053hg38UCSC Ensembl
chr19:14286865..14286865hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5650012
Supporting Variants
SamplesHG02492
Known GenesLPHN1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17103149
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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