A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871961



Internal ID22646899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178110458..178110784hg38UCSC Ensembl
chr1:178079593..178079919hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358269
Samples
Known GenesRASAL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871961
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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