A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14312939



Internal ID22265762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55400562..55402839hg38UCSC Ensembl
chr4:56266729..56269006hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382278
hg192278
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197541
Supporting Variants
SamplesNA19238
Known GenesTMEM165
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14312939
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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