A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17375365



Internal ID22601034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39176109..39176109hg38UCSC Ensembl
chr1:39641781..39641781hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957778
Supporting Variants
Samples
Known GenesMACF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17375365
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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