A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14311432



Internal ID22259369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8869201..8914200hg38UCSC Ensembl
chr4:8870927..8915926hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3845000
hg1945000
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196514
Supporting Variants
SamplesNA19238
Known GenesHMX1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14311432
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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