A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14317582



Internal ID22123937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186548847..186549224hg38UCSC Ensembl
chr4:187470001..187470378hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206354
Supporting Variants
SamplesHG00512
Known GenesMTNR1A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14317582
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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