A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18069271



Internal ID20636311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13047401..13188300hg38UCSC Ensembl
chr21:14419722..14560621hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38140900
hg19140900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6536437
Supporting Variants
Samples
Known GenesANKRD30BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18069271
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.04348


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