A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621622



Internal ID21569927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74276668..74276668hg38UCSC Ensembl
chr2:74503795..74503795hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113640
SamplesHG02587
Known GenesSLC4A5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621622
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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