A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17487727



Internal ID22545643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143298380..143300633hg38UCSC Ensembl
chr2:144055949..144058202hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg382254
hg192254
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831608
Supporting Variants
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17487727
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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