A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2468355



Internal ID17886803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88448632..88449853hg38UCSC Ensembl
Innerchr7:88077947..88079168hg19UCSC Ensembl
Innerchr7:87915883..87917104hg18UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381222
hg191222
hg181222
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966855
Supporting Variants
SamplesHGDP01307
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)nssv2468355
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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