A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345785



Internal ID21003338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44465807..44563702hg38UCSC Ensembl
chr2:44692946..44790841hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3897896
hg1997896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18088655
Samples
Known GenesCAMKMT, MIR548AD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345785
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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