A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5644488



Internal ID21592793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70221380..70221380hg38UCSC Ensembl
chr9:72836296..72836296hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17162769
SamplesNA19238
Known GenesMAMDC2, SMC5-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5644488
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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