A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1824498



Internal ID17521442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231365816..231366427hg38UCSC Ensembl
Innerchr1:231501562..231502173hg19UCSC Ensembl
Innerchr1:229568185..229568796hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38612
hg19612
hg18612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945371
Supporting Variants
SamplesHGDP01284
Known GenesEGLN1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1824498
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer