A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850331



Internal ID22033974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37207519..37207519hg38UCSC Ensembl
chr2:37434662..37434662hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6242909
Supporting Variants
Samples
Known GenesCEBPZ
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850331
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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