A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2285242



Internal ID17884060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:73110640..73112351hg38UCSC Ensembl
Innerchr3:73159791..73161502hg19UCSC Ensembl
Innerchr3:73242481..73244192hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg381712
hg191712
hg181712
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963328
Supporting Variants
SamplesHGDP01307
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)nssv2285242
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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