A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2181209



Internal ID17771935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86885198..86886426hg38UCSC Ensembl
Innerchr2:87112321..87113549hg19UCSC Ensembl
Innerchr2:86965832..86967060hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381229
hg191229
hg181229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961429
Supporting Variants
SamplesHGDP00542
Known GenesANAPC1P1
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)nssv2181209
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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