A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2472251



Internal ID17753377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:103158058..103164911hg38UCSC Ensembl
Innerchr7:102798505..102805358hg19UCSC Ensembl
Innerchr7:102585741..102592594hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg386854
hg196854
hg186854
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966873
Supporting Variants
SamplesHGDP00521
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2472251
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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