A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2436788



Internal ID17780369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:22881031..22885050hg38UCSC Ensembl
Innerchr7:22920650..22924669hg19UCSC Ensembl
Innerchr7:22887175..22891194hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg384020
hg194020
hg184020
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981439
Supporting Variants
SamplesHGDP00665
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)nssv2436788
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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