A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16269627



Internal ID20478845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148387429..148387517hg38UCSC Ensembl
chr6:148708565..148708653hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4745153
Supporting Variants
Samples
Known GenesSASH1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16269627
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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