A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943605



Internal ID22719056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49553953..49564665hg38UCSC Ensembl
chr12:49947736..49958448hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3810713
hg1910713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356759
Samples
Known GenesKCNH3, MCRS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943605
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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