A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6461054



Internal ID21118607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26831701..26834700hg38UCSC Ensembl
chr12:26984634..26987633hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185890
Samples
Known GenesITPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6461054
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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