A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13695937



Internal ID21217789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39234648..39234648hg38UCSC Ensembl
chr1:39700320..39700320hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2801946
Supporting Variants
Samples
Known GenesMACF1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13695937
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.95


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