A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190103



Internal ID20757143
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 StatusS
Merged Variantsnsv6458989
Supporting Variants
Samples
Known GenesERC1, NINJ2, RAD52, WNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190103
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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