A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17536866



Internal ID21861221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48340805..48349305hg38UCSC Ensembl
chr1:48806477..48814977hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg388501
hg198501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5984595
Supporting Variants
Samples
Known GenesSPATA6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17536866
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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