A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179688



Internal ID20746728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55917763..55918669hg38UCSC Ensembl
chr12:56311547..56312453hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38907
hg19907
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6474830
Supporting Variants
Samples
Known GenesWIBG
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179688
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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