A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17373585



Internal ID22599254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46982903..47949086hg38UCSC Ensembl
chr16:47016814..47982997hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38966184
hg19966184
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979505
Supporting Variants
Samples
Known GenesITFG1, NETO2, PHKB
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17373585
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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