A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547950



Internal ID20921149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46245886..46247084hg38UCSC Ensembl
chr22:46641783..46642981hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381199
hg191199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18074972
Samples
Known GenesCDPF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547950
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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