A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14310751



Internal ID22306494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6687301..6690500hg38UCSC Ensembl
chr4:6689028..6692227hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190748
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14310751
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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