A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2475415



Internal ID17750353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:125297780..125301897hg38UCSC Ensembl
Innerchr7:124937834..124941951hg19UCSC Ensembl
Innerchr7:124725070..124729187hg18UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg384118
hg194118
hg184118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970936
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv2475415
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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