A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5850747



Internal ID22625682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49553889..49564514hg38UCSC Ensembl
chr12:49947672..49958297hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3810626
hg1910626
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17453732
Samples
Known GenesKCNH3, MCRS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5850747
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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