A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5643444



Internal ID21591749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48664661..48664661hg38UCSC Ensembl
chr7:48704257..48704257hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg383914
hg193914
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17141239
SamplesHG01596
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5643444
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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