A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17122849



Internal ID21470493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124638193..124642715hg38UCSC Ensembl
chr3:124357040..124361562hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg384523
hg194523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5580608
Supporting Variants
SamplesHG03125
Known GenesKALRN
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17122849
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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