A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13702852



Internal ID21224666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180113289..180113459hg38UCSC Ensembl
chr5:179540289..179540459hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2812275
Supporting Variants
Samples
Known GenesRASGEF1C
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13702852
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.653846


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