A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5655606



Internal ID21603911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47325025..47325025hg38UCSC Ensembl
chr17:45402391..45402391hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17083849
SamplesHG00731
Known GenesEFCAB13
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5655606
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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