A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2055332



Internal ID17403098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29420028..29449408hg38UCSC Ensembl
Innerchr16:29431349..29460729hg19UCSC Ensembl
Innerchr16:29338850..29368230hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3829381
hg1929381
hg1829381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv984307
Supporting Variants
SamplesHGDP00521
Known GenesLOC606724
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)nssv2055332
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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