A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17500883



Internal ID22558820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10745234..10794867hg38UCSC Ensembl
chr6:10745467..10795100hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg3849634
hg1949634
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5843695
Supporting Variants
Samples
Known GenesMAK, TMEM14B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17500883
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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