A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5576350



Internal ID21524788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240805032..240805087hg38UCSC Ensembl
chr2:241744449..241744504hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112153
SamplesHG00864
Known GenesKIF1A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5576350
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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