A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2176627



Internal ID17491781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70281341..70282539hg38UCSC Ensembl
Innerchr2:70508473..70509671hg19UCSC Ensembl
Innerchr2:70361977..70363175hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979017
Supporting Variants
SamplesHGDP00998
Known GenesSNRPG
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)nssv2176627
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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