A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462231



Internal ID21119784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30590301..30594600hg38UCSC Ensembl
chr12:30743235..30747534hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg384300
hg194300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1452n223
Supporting Variantsnssv18196235
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462231
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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