A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252762



Internal ID22057372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98491611..98491611hg38UCSC Ensembl
chr2:99108074..99108074hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853008
Samples
Known GenesINPP4A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252762
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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