A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2054716



Internal ID17847744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29466968..29482470hg38UCSC Ensembl
Innerchr16:29478289..29493791hg19UCSC Ensembl
Innerchr16:29385790..29401292hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3815503
hg1915503
hg1815503
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv977953
Supporting Variants
SamplesHGDP01029
Known GenesLOC388242, LOC613038
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)nssv2054716
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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