A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345574



Internal ID21003127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54488836..54525818hg38UCSC Ensembl
chr2:54715973..54752955hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3836983
hg1936983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18087539
Samples
Known GenesSPTBN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345574
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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