A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462423



Internal ID21119976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7674221..7829881hg38UCSC Ensembl
chr12:7826817..7982477hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38155661
hg19155661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192674
Samples
Known GenesCLEC4C, DPPA3, GDF3, NANOG, NANOGNB, SLC2A14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462423
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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