A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18088638



Internal ID20655678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44317625..44377052hg38UCSC Ensembl
chr2:44544764..44604191hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3859428
hg1959428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351102
Supporting Variants
Samples
Known GenesCAMKMT, PREPL, SLC3A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18088638
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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