A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918967



Internal ID13411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143158881..143160143hg38UCSC Ensembl
chr2:143916450..143917712hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg381263
hg191263
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559317
Supporting Variants
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918967
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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