A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187978



Internal ID20755018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124011301..124013000hg38UCSC Ensembl
chr12:124495848..124497547hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492925
Supporting Variants
Samples
Known GenesZNF664, ZNF664-FAM101A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187978
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.06998


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