A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6549956



Internal ID20923107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33699218..33800913hg38UCSC Ensembl
chr22:34095204..34196900hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38101696
hg19101697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4691n223
Supporting Variantsnssv18073632
Samples
Known GenesLARGE, LARGE-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6549956
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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