A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394473



Internal ID22452343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44996777..45000071hg38UCSC Ensembl
chr2:45223916..45227210hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383295
hg193295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877751
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394473
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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