A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2445663



Internal ID17748331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44009977..44024239hg38UCSC Ensembl
Innerchr7:44049576..44063838hg19UCSC Ensembl
Innerchr7:44016101..44030363hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3814263
hg1914263
hg1814263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966787
Supporting Variants
SamplesHGDP00521
Known GenesPOLR2J4, SPDYE1
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)nssv2445663
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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