A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18088647



Internal ID20655687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44428505..44484982hg38UCSC Ensembl
chr2:44655644..44712121hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3856478
hg1956478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6350909
Supporting Variants
Samples
Known GenesCAMKMT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18088647
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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