A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458989



Internal ID21116542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:576943..1155433hg38UCSC Ensembl
chr12:686109..1264599hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38578491
hg19578491
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18190103
Samples
Known GenesERC1, NINJ2, RAD52, WNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458989
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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