A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2300968



Internal ID17864130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:149462520..149464121hg38UCSC Ensembl
Innerchr3:149180307..149181908hg19UCSC Ensembl
Innerchr3:150662997..150664598hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381602
hg191602
hg181602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965221
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)nssv2300968
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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