A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1771378



Internal ID17449229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68475592..68477428hg38UCSC Ensembl
Innerchr1:68941275..68943111hg19UCSC Ensembl
Innerchr1:68713863..68715699hg18UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg381837
hg191837
hg181837
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945990
Supporting Variants
SamplesHGDP00778
Known GenesDEPDC1
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)nssv1771378
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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