A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874280



Internal ID22649231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9786592..9796632hg38UCSC Ensembl
chr1:9846650..9856690hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3810041
hg1910041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395357
Samples
Known GenesCLSTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874280
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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