A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976712



Internal ID22751647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76728306..76728306hg38UCSC Ensembl
chr17:74724388..74724388hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371184
Samples
Known GenesMETTL23
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976712
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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