A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2291057



Internal ID17475520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112827165..112827665hg38UCSC Ensembl
Innerchr3:112546012..112546512hg19UCSC Ensembl
Innerchr3:114028702..114029202hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965198
Supporting Variants
SamplesHGDP00927
Known GenesCD200R1L
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)nssv2291057
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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