A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13699749



Internal ID21221585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1876937..1876937hg38UCSC Ensembl
chr7:1916573..1916573hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382502
hg192502
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2816508
Supporting Variants
Samples
Known GenesMAD1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13699749
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.46875


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