A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17456971



Internal ID22514852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14619517..14635297hg38UCSC Ensembl
chr12:14772451..14788231hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3815781
hg1915781
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5849544
Supporting Variants
Samples
Known GenesGUCY2C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17456971
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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