A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1771110



Internal ID17465718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:67411007..67414356hg38UCSC Ensembl
Innerchr1:67876690..67880039hg19UCSC Ensembl
Innerchr1:67649278..67652627hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383350
hg193350
hg183350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945985
Supporting Variants
SamplesHGDP00927
Known GenesSERBP1
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)nssv1771110
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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