A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2472354



Internal ID17396766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100180714..100195131hg38UCSC Ensembl
Innerchr7:99778337..99792754hg19UCSC Ensembl
Innerchr7:99616273..99630690hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3814418
hg1914418
hg1814418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966866
Supporting Variants
SamplesHGDP00456
Known GenesSTAG3
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)nssv2472354
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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