A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1774546



Internal ID17879088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:81594889..81596824hg38UCSC Ensembl
Innerchr1:82060574..82062509hg19UCSC Ensembl
Innerchr1:81833162..81835097hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381936
hg191936
hg181936
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946022
Supporting Variants
SamplesHGDP01307
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)nssv1774546
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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