A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14360645



Internal ID22143619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35628578..35628641hg38UCSC Ensembl
chr1:36094179..36094242hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204566
Supporting Variants
SamplesHG00513
Known GenesPSMB2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14360645
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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