A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2185909



Internal ID17771807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91859320..91975654hg38UCSC Ensembl
Innerchr2:92047346..92163680hg19UCSC Ensembl
Innerchr2:91411073..91527407hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38116335
hg19116335
hg18116335
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv963656
Supporting Variants
SamplesHGDP00542
Known GenesACTR3BP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2185909
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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