A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2300351



Internal ID17384056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:185649148..185649648hg38UCSC Ensembl
Innerchr3:185366936..185367436hg19UCSC Ensembl
Innerchr3:186849630..186850130hg18UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963388
Supporting Variants
SamplesHGDP00456
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)nssv2300351
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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