A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2074957



Internal ID17866824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8295073..8297183hg38UCSC Ensembl
Innerchr17:8198391..8200501hg19UCSC Ensembl
Innerchr17:8139116..8141226hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382111
hg192111
hg182111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962253
Supporting Variants
SamplesHGDP01284
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)nssv2074957
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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