A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17487723



Internal ID22545639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143164128..143171551hg38UCSC Ensembl
chr2:143921697..143929120hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg387424
hg197424
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831023
Supporting Variants
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17487723
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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