A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17390665



Internal ID22448535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60472999..60473050hg38UCSC Ensembl
chr2:60700134..60700185hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878173
Supporting Variants
Samples
Known GenesBCL11A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17390665
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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