A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613473



Internal ID21561778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241590953..241590953hg38UCSC Ensembl
chr2:242530368..242530368hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381521
hg191521
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112356
SamplesHG00731
Known GenesTHAP4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613473
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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