A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14348208



Internal ID22146983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16402543..16402784hg38UCSC Ensembl
chr1:16729038..16729279hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192456
Supporting Variants
SamplesHG00514
Known GenesSPATA21
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14348208
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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