A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965754



Internal ID22740689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129101173..129101173hg38UCSC Ensembl
chr5:128436866..128436866hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17417894
Samples
Known GenesISOC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965754
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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