A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2041941



Internal ID17540342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:10108889..10114322hg38UCSC Ensembl
Innerchr16:10202746..10208179hg19UCSC Ensembl
Innerchr16:10110247..10115680hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg385434
hg195434
hg185434
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977899
Supporting Variants
SamplesHGDP01307
Known GenesGRIN2A
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)nssv2041941
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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