A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2053708



Internal ID17865382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28447571..28471677hg38UCSC Ensembl
Innerchr16:28458892..28482998hg19UCSC Ensembl
Innerchr16:28366393..28390499hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3824107
hg1924107
hg1824107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974791
Supporting Variants
SamplesHGDP01284
Known GenesCLN3
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)nssv2053708
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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