A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812441



Internal ID21257779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180113289..180113497hg38UCSC Ensembl
chr5:179540289..179540497hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv302n137
Supporting Variantsnssv13709905
Samples
Known GenesRASGEF1C
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812441
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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