A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2307785



Internal ID17730452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196985670..196988185hg38UCSC Ensembl
Innerchr3:196712541..196715056hg19UCSC Ensembl
Innerchr3:198196938..198199453hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382516
hg192516
hg182516
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979914
Supporting Variants
SamplesHGDP00456
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)nssv2307785
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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