A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252554



Internal ID22057164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:67402567..67402567hg38UCSC Ensembl
chr2:67629699..67629699hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17850225
Samples
Known GenesETAA1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252554
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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