A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912504



Internal ID9087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38936874..38937112hg38UCSC Ensembl
chr2:39164015..39164253hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6147483
Supporting Variants
Samples
Known GenesARHGEF33
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912504
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000625


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