A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956445



Internal ID22731631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78243388..78243388hg38UCSC Ensembl
chr1:78709072..78709072hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373271
Samples
Known GenesMGC27382
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956445
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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