A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2419329



Internal ID17490602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:110839898..110851864hg38UCSC Ensembl
Innerchr6:111161101..111173067hg19UCSC Ensembl
Innerchr6:111267794..111279760hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3811967
hg1911967
hg1811967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965751
Supporting Variants
SamplesHGDP00998
Known GenesAMD1
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)nssv2419329
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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