A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366763



Internal ID22291630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52444906..52444958hg38UCSC Ensembl
chr1:52910578..52910630hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196866
Supporting Variants
SamplesNA19240
Known GenesZCCHC11
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366763
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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