A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17483421



Internal ID22541328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238083590..238086989hg38UCSC Ensembl
chr2:238992231..238995630hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383400
hg193400
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832263
Supporting Variants
Samples
Known GenesSCLY, UBE2F-SCLY
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17483421
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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