A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362581



Internal ID22190387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5481484..5481610hg38UCSC Ensembl
chr12:5590650..5590776hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528589
Supporting Variants
SamplesHG00731
Known GenesNTF3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362581
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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