A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869000



Internal ID22643935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220176893..220177057hg38UCSC Ensembl
chr1:220350235..220350399hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354636
Samples
Known GenesRAB3GAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869000
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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