A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953948



Internal ID22729216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17130361..17130361hg38UCSC Ensembl
chr5:17130470..17130470hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415925
Samples
Known GenesLOC285696
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953948
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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