A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344409



Internal ID21001962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73698841..73749416hg38UCSC Ensembl
chr2:73925968..73976543hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3850576
hg1950576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089741
Samples
Known GenesNAT8B, TPRKB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344409
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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