A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2435567



Internal ID17843601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:12471232..12473125hg38UCSC Ensembl
Innerchr7:12510858..12512751hg19UCSC Ensembl
Innerchr7:12477383..12479276hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381894
hg191894
hg181894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970797
Supporting Variants
SamplesHGDP01029
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)nssv2435567
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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