A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2054796



Internal ID17847976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29482470..29521497hg38UCSC Ensembl
Innerchr16:29493791..29532818hg19UCSC Ensembl
Innerchr16:29401292..29440319hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3839028
hg1939028
hg1839028
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974795
Supporting Variants
SamplesHGDP01029
Known Genes
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)nssv2054796
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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