A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5849221



Internal ID22624156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12135343..12139627hg38UCSC Ensembl
chr8:11992852..11997136hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384285
hg194285
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17506136, nssv17506134, nssv17506135, nssv17506137
Samples
Known GenesFAM66D, USP17L2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5849221
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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