A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868070



Internal ID22643005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63503903..63504487hg38UCSC Ensembl
chr1:63969574..63970158hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372581
Samples
Known GenesITGB3BP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868070
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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