A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2459619



Internal ID17842175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66602389..66610934hg38UCSC Ensembl
Innerchr7:66067376..66075921hg19UCSC Ensembl
Innerchr7:65704811..65713356hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg388546
hg198546
hg188546
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981511
Supporting Variants
SamplesHGDP00998
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)nssv2459619
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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