A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17487496



Internal ID22545412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58132024..58133123hg38UCSC Ensembl
chr2:58359159..58360258hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833333
Supporting Variants
Samples
Known GenesVRK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17487496
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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