A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14314633



Internal ID22190311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:93419091..93421013hg38UCSC Ensembl
chr4:94340242..94342164hg19UCSC Ensembl
Cytoband4q22.2
Allele length
AssemblyAllele length
hg381923
hg191923
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194554
Supporting Variants
SamplesHG00731
Known GenesGRID2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14314633
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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