A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250679



Internal ID22055289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19904905..19904905hg38UCSC Ensembl
chr17:19808218..19808218hg19UCSC Ensembl
Cytoband17p11.2
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 Variantsnssv17848156
Samples
Known GenesAKAP10
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250679
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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