A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2210011



Internal ID17486641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165991129..165992860hg38UCSC Ensembl
Innerchr2:166847639..166849370hg19UCSC Ensembl
Innerchr2:166555885..166557616hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381732
hg191732
hg181732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961904
Supporting Variants
SamplesHGDP00998
Known GenesSCN1A
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)nssv2210011
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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