A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13708348



Internal ID21230141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101623784..101623784hg38UCSC Ensembl
chr8:102636012..102636012hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2817144
Supporting Variants
Samples
Known GenesGRHL2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13708348
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.65625


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