A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190057



Internal ID20757097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26191501..26198000hg38UCSC Ensembl
chr12:26344434..26350933hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460560
Supporting Variants
Samples
Known GenesSSPN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190057
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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