A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2287675



Internal ID17848040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:88188733..88189818hg38UCSC Ensembl
Innerchr3:88237883..88238968hg19UCSC Ensembl
Innerchr3:88320573..88321658hg18UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg381086
hg191086
hg181086
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967035
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)nssv2287675
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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