A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2472472



Internal ID17820273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100197636..100199553hg38UCSC Ensembl
Innerchr7:99795259..99797176hg19UCSC Ensembl
Innerchr7:99633195..99635112hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381918
hg191918
hg181918
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981556
Supporting Variants
SamplesHGDP00927
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)nssv2472472
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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