A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1799486



Internal ID17764631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155583606..155587816hg38UCSC Ensembl
Innerchr1:155553397..155557607hg19UCSC Ensembl
Innerchr1:153820021..153824231hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg384211
hg194211
hg184211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946418
Supporting Variants
SamplesHGDP00542
Known Genes
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)nssv1799486
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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