A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17461383



Internal ID22519266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123462677..123464520hg38UCSC Ensembl
chr12:123947224..123949067hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381844
hg191844
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5852456
Supporting Variants
Samples
Known GenesSNRNP35
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17461383
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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