A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612344



Internal ID21560649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41037038..41037038hg38UCSC Ensembl
chr1:41502710..41502710hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg386051
hg196051
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065743
SamplesHG03486
Known GenesSCMH1, SLFNL1-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612344
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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