A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252611



Internal ID22057221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74229116..74229116hg38UCSC Ensembl
chr2:74456243..74456243hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17851963
Samples
Known GenesSLC4A5
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252611
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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