A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14309249



Internal ID22188977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119228790..119228848hg38UCSC Ensembl
chr3:118947637..118947695hg19UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206764
Supporting Variants
SamplesHG00731
Known GenesB4GALT4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14309249
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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