A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14317295



Internal ID22117335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173399527..173399665hg38UCSC Ensembl
chr4:174320678..174320816hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526474
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14317295
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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