A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17506135



Internal ID22564081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12135343..12139627hg38UCSC Ensembl
chr8:11992852..11997136hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384285
hg194285
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5849221
Supporting Variants
Samples
Known GenesFAM66D, USP17L2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17506135
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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