A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2458596



Internal ID17740493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66377707..66411886hg38UCSC Ensembl
Innerchr7:65842694..65876873hg19UCSC Ensembl
Innerchr7:65480129..65514308hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3834180
hg1934180
hg1834180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981506
Supporting Variants
SamplesHGDP00456
Known GenesLINC00174
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)nssv2458596
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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