A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13687974



Internal ID21209827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74727206..74727206hg38UCSC Ensembl
chr1:75192890..75192890hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383714
hg193714
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2802583
Supporting Variants
Samples
Known GenesCRYZ
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13687974
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.21875


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