A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1813755



Internal ID17496386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:197097704..197100708hg38UCSC Ensembl
Innerchr1:197066834..197069838hg19UCSC Ensembl
Innerchr1:195333457..195336461hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383005
hg193005
hg183005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946564
Supporting Variants
SamplesHGDP01029
Known GenesASPM
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)nssv1813755
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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