A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5857852



Internal ID22632787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14647918..14661788hg38UCSC Ensembl
chr12:14800852..14814722hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3813871
hg1913871
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17462693
Samples
Known GenesGUCY2C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5857852
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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