A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13700117



Internal ID21221953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44181721..44181721hg38UCSC Ensembl
chr6:44149458..44149458hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2813385
Supporting Variants
Samples
Known GenesCAPN11
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13700117
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.277778


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