A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1781689



Internal ID17846538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108989617..108994999hg38UCSC Ensembl
Innerchr1:109532239..109537621hg19UCSC Ensembl
Innerchr1:109333762..109339144hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg385383
hg195383
hg185383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946127
Supporting Variants
SamplesHGDP01029
Known GenesWDR47
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)nssv1781689
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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