A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14383901



Internal ID22209986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95162383..95162496hg38UCSC Ensembl
chr1:95627939..95628052hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200462
Supporting Variants
SamplesHG00732
Known GenesTMEM56, TMEM56-RWDD3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14383901
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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