A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2480907



Internal ID17473847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140293076..140294226hg38UCSC Ensembl
Innerchr7:139992876..139994026hg19UCSC Ensembl
Innerchr7:139639345..139640495hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381151
hg191151
hg181151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966895
Supporting Variants
SamplesHGDP00927
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)nssv2480907
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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