A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2466513



Internal ID17435123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75922663..75924137hg38UCSC Ensembl
Innerchr7:75551981..75553455hg19UCSC Ensembl
Innerchr7:75389917..75391391hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381475
hg191475
hg181475
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970539
Supporting Variants
SamplesHGDP00665
Known GenesPOR
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)nssv2466513
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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