A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2305876



Internal ID17788568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:185689237..185690921hg38UCSC Ensembl
Innerchr3:185407025..185408709hg19UCSC Ensembl
Innerchr3:186889719..186891403hg18UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg381685
hg191685
hg181685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963389
Supporting Variants
SamplesHGDP00665
Known GenesIGF2BP2
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)nssv2305876
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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