A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250761



Internal ID22055371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35771752..35771752hg38UCSC Ensembl
chr17:34098757..34098757hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848439
Samples
Known GenesMMP28
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250761
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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