A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17096761



Internal ID21430445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73719828..73719828hg38UCSC Ensembl
chr14:74186531..74186531hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5654961
Supporting Variants
SamplesHG00731
Known GenesELMSAN1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17096761
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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