A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2056687



Internal ID17802145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30535743..30539663hg38UCSC Ensembl
Innerchr16:30547064..30550984hg19UCSC Ensembl
Innerchr16:30454565..30458485hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383921
hg193921
hg183921
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977958
Supporting Variants
SamplesHGDP00778
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)nssv2056687
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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