A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2452579



Internal ID17877515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:57049250..57144047hg38UCSC Ensembl
Innerchr7:57116957..57211754hg19UCSC Ensembl
Innerchr7:57120899..57215696hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3894798
hg1994798
hg1894798
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966801
Supporting Variants
SamplesHGDP01307
Known GenesZNF479
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)nssv2452579
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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