A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17465623



Internal ID22523512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8740615..8746414hg38UCSC Ensembl
chr12:8893211..8899010hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385800
hg195800
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5863167
Supporting Variants
Samples
Known GenesRIMKLB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17465623
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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