A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5624628



Internal ID21572933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100991652..100991652hg38UCSC Ensembl
chr7:100634933..100634933hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385307
hg195307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17155591
SamplesHG01505
Known GenesMUC12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5624628
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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