A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15192484



Internal ID21331365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39234647..39234647hg38UCSC Ensembl
chr1:39700319..39700319hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3929805
Supporting Variants
SamplesHG002
Known GenesMACF1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15192484
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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