A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1826384



Internal ID17793977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242375143..242378997hg38UCSC Ensembl
Innerchr1:242538445..242542299hg19UCSC Ensembl
Innerchr1:240605068..240608922hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383855
hg193855
hg183855
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945411
Supporting Variants
SamplesHGDP00778
Known GenesPLD5
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)nssv1826384
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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