A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13707918



Internal ID21229712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196511959..196511959hg38UCSC Ensembl
chr3:196238830..196238830hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2809009
Supporting Variants
Samples
Known GenesC3orf43
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13707918
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.4


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