A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17455254



Internal ID22513131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210111316..210115996hg38UCSC Ensembl
chr1:210284661..210289341hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384681
hg194681
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829182
Supporting Variants
Samples
Known GenesSYT14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17455254
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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