A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18100987



Internal ID20668027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52974840..52978644hg38UCSC Ensembl
chr3:53008856..53012660hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg383805
hg193805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6356712
Supporting Variants
Samples
Known GenesSFMBT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18100987
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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