A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371184



Internal ID22596853
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 StatusS
Merged Variantsnsv5976712
Supporting Variants
Samples
Known GenesMETTL23
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371184
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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