A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1810193



Internal ID17735214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193755057..193762219hg38UCSC Ensembl
Innerchr1:193724187..193731349hg19UCSC Ensembl
Innerchr1:191990810..191997972hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg387163
hg197163
hg187163
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946552
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)nssv1810193
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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