A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949463



Internal ID22724912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32698138..32699174hg38UCSC Ensembl
chr21:34070448..34071484hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381037
hg191037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406389
Samples
Known GenesSYNJ1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949463
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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