A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1761872



Internal ID17877740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43743456..43744045hg38UCSC Ensembl
Innerchr1:44209127..44209716hg19UCSC Ensembl
Innerchr1:43981714..43982303hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38590
hg19590
hg18590
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945910
Supporting Variants
SamplesHGDP01307
Known GenesST3GAL3
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)nssv1761872
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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