A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177985



Internal ID20745025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53604917..53632730hg38UCSC Ensembl
chr12:53998701..54026514hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3827814
hg1927814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466611
Supporting Variants
Samples
Known GenesATF7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177985
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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