A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1806732



Internal ID17739610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175921001..175934346hg38UCSC Ensembl
Innerchr1:175890137..175903482hg19UCSC Ensembl
Innerchr1:174156760..174170105hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3813346
hg1913346
hg1813346
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946515
Supporting Variants
SamplesHGDP00456
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)nssv1806732
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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