A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209794



Internal ID20776835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44220187..44230321hg38UCSC Ensembl
chr2:44447326..44457460hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3810135
hg1910135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6354811
Supporting Variants
Samples
Known GenesPPM1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209794
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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