A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186682



Internal ID20753722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94055631..94807220hg38UCSC Ensembl
chr12:94449407..95200996hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38751590
hg19751590
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6461603
Supporting Variants
Samples
Known GenesCCDC41, CCDC41-AS1, MIR5700, MIR7844, PLXNC1, TMCC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186682
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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