A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2285895



Internal ID17863960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:76534205..76538284hg38UCSC Ensembl
Innerchr3:76583356..76587435hg19UCSC Ensembl
Innerchr3:76666046..76670125hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg384080
hg194080
hg184080
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965180
Supporting Variants
SamplesHGDP01284
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)nssv2285895
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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