A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2284873



Internal ID17783824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75940518..75970996hg38UCSC Ensembl
Innerchr3:75989669..76020147hg19UCSC Ensembl
Innerchr3:76072359..76102837hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3830479
hg1930479
hg1830479
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979846
Supporting Variants
SamplesHGDP00665
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)nssv2284873
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer