A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17557500



Internal ID21881855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48992736..48992792hg38UCSC Ensembl
chr3:49030169..49030225hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5993497
Supporting Variants
Samples
Known GenesP4HTM
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17557500
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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