A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13708975



Internal ID21230761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174937748..174937748hg38UCSC Ensembl
chr1:174906885..174906885hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381094
hg191094
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2800829
Supporting Variants
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13708975
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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