A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2467484



Internal ID17841598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:84876496..84878097hg38UCSC Ensembl
Innerchr7:84505812..84507413hg19UCSC Ensembl
Innerchr7:84343748..84345349hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg381602
hg191602
hg181602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970546
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)nssv2467484
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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