A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287236



Internal ID22191195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76392885..76394807hg38UCSC Ensembl
chr18:74104841..74106763hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381923
hg191923
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528187
Supporting Variants
SamplesHG00731
Known GenesZNF516
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287236
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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