A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647202



Internal ID21595507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7471972..7471972hg38UCSC Ensembl
chr19:7536858..7536858hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17106863
SamplesHG03009
Known GenesARHGEF18
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647202
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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