A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1763094



Internal ID17844794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44843213..44844763hg38UCSC Ensembl
Innerchr1:45308885..45310435hg19UCSC Ensembl
Innerchr1:45081472..45083022hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381551
hg191551
hg181551
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945913
Supporting Variants
SamplesHGDP01029
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)nssv1763094
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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