A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2409960



Internal ID17462775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57436476..60411559hg38UCSC Ensembl
Innerchr6:57301274..57383601hg19UCSC Ensembl
Innerchr6:57409233..57491560hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg382975084
hg1982328
hg1882328
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv969404
Supporting Variants
SamplesHGDP00778
Known GenesPRIM2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2409960
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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